GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MTRR I22Minsufficiently evaluated not reviewedunknown

(152 web hits)

hu728FFF build 36 substitution variants
MTRR I49Muncertain pathogenic, f=0.451recessive

This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as “MTRR I22M” (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.

(9 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
MTRR S175Linsufficiently evaluated not reviewedunknown

(46 web hits)

hu728FFF build 36 substitution variants
MTRR A176Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
MTRR S202Linsufficiently evaluated not reviewed, f=0.328unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MTRR S257Tinsufficiently evaluated noneunknown

(18 web hits)

MTRR S258Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
MTRR S284Tinsufficiently evaluated benign, f=0.021unknown

While other variants in MTRR are associated with homocystinuria (among other diseases), GeneDx classifies this variant in ClinVar as probably benign.

(3 web hits)

var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18956-1100-36-ASM
MTRR T286Minsufficiently evaluated noneunknown
MTRR Y307Cinsufficiently evaluated noneunknown
MTRR T313Minsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
MTRR L333Vinsufficiently evaluated noneunknown

(2 web hits)

MTRR Y334Cinsufficiently evaluated noneunknown
MTRR V341Iinsufficiently evaluated noneunknown
MTRR K350Rinsufficiently evaluated noneunknown

(21 web hits)

MTRR L360Vinsufficiently evaluated none, f=0.050unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19238-1100-36-ASM
MTRR Q367Rinsufficiently evaluated not reviewedunknown
MTRR V368Iinsufficiently evaluated none, f=0.001unknown
MTRR K377Rinsufficiently evaluated none, f=0.208unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MTRR Q394Rinsufficiently evaluated not reviewedunknown
MTRR R415Cinsufficiently evaluated noneunknown

(5 web hits)

MTRR R442Cinsufficiently evaluated none, f=0.028unknown var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18956-1100-36-ASM
MTRR P450Rinsufficiently evaluated noneunknown

(23 web hits)

MTRR S454Linsufficiently evaluated pathogenicunknown

(9 web hits)

MTRR P477Rinsufficiently evaluated none, f=0.023unknown var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18956-1100-36-ASM
MTRR G487Rinsufficiently evaluated pathogenicunknown

(13 web hits)

MTRR T517Ainsufficiently evaluated not reviewedrecessive CGI sample GS01669-DNA_B05 from PGP sample 86486261
MTRR P545Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
MTRR H595Yinsufficiently evaluated noneunknown

(19 web hits)

MTRR H622Yinsufficiently evaluated none, f=0.174unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MTRR Q626Xinsufficiently evaluated noneunknown
MTRR Q653Xinsufficiently evaluated noneunknown
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Total results: 32

Gene search

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