MYO7A L16S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

MYO7A L16S

(MYO7A Leu16Ser)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 144.08; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism, P value: 0.999997; protein features (might be) affected (aa 1-729 DOMAIN Myosin head-like gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr11:76853783: 47.0% (4839/10298) in EVS
  • C @ chr11:76531430: 52.3% (67/128) in GET-Evidence
  • Frequency shown in summary reports: 47.0% (4839/10298)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr11:76853783

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr11:76853783

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr11:76853783

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr11:76853783

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr11:76853783

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr11:76853783

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr11:76853783

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr11:76853783

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr11:76853783

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr11:76853783

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr11:76853783

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr11:76853783

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr11:76853783

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr11:76853783

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr11:76853783

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr11:76853783

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr11:76853783

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr11:76853783

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr11:76853783

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr11:76853783

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr11:76531431

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr11:76531431

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr11:76531431

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr11:76531431

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr11:76531431

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr11:76531431

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr11:76531431

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr11:76531431

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr11:76531431

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr11:76531431

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr11:76531431

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr11:76531431

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr11:76531431

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr11:76531431

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr11:76531431

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr11:76531431

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr11:76531431

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr11:76531431

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr11:76531431

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr11:76531431

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr11:76531431

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr11:76531431

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr11:76531431

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr11:76531431

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr11:76531431

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr11:76531431

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr11:76531431

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr11:76531431

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr11:76531431

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr11:76531431

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr11:76531431

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr11:76531431

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr11:76531431

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr11:76531431

 

Other external references
 

    dbSNP
  • rs1052030
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MYO7A gene
    Usher Syndrome Type 1
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA11 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1B
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYO7A
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (14 hits -- see all)
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note7.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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