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Curation:

Currentness:

(See the latest version)

BRCA1 R1347G

(BRCA1 Arg1347Gly)

You are viewing an old version of this page that was saved on May 25, 2011 at 11:08pm by Madeleine Ball.

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

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

unknown

Allele frequency

C @ chr17:41243509: 0.4% (46/10758) in EVS
C @ chr17:38497034: 2.3% (3/128) in GET-Evidence
Frequency shown in summary reports: 0.4% (46/10758)

Publications

Edited in this revision:

These authors report this variant in 1 of 114 cases and 0 out of 232 controls, they are inconclusive regarding whether it is pathogenic. The allele frequency seems a bit low compared to other reports.

(Based on the abstract) These authors conclude this variant (among a set of others) is not deleterious, based on “epidemiological and biological criteria”. It had not statistically significant difference between patient and control populations.

Genomes

Other external references

dbSNP

rs28897689
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the BRCA1 gene
BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
BRCA1 Hereditary Breast/Ovarian Cancer
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRCA1

PolyPhen-2

Score: 0.991 (probably damaging)

Web search results (32 hits -- see all)

BRCA1 UVs
BRCA1. 8. 613. T to C. 165. Leu to Pro. L165P. Nee. 1. BRCA1. 10. 760. A to G. 214 ... 1. BRCA1. 11. 4158. A to G. 1347. Arg to Gly. 4158A/G (R1347G) Ja. 8. BRCA1. 13 ...
www.humgen.nl/lab-devilee/UncVar/B1UVs.htm
Characterization of common BRCA1 and BRCA2 variants.
2002 Summer;6(2):119-21. Characterization of common BRCA1 and BRCA2 variants. ... therefore conclude that the BRCA1 missense mutations R1347G, S1512I ...
www.ncbi.nlm.nih.gov/pubmed/12215251
Comparison of BRCA1 polymorphisms, rare sequence variants and ...
The BRCA1 gene contains 5592 bp of coding sequence encompassed within 22 exons spread ... as of the R1347G mutation on the BRCA1 activity when a functional ...
hmg.oxfordjournals.org/cgi/content/full/5/6/835
A Multi-Exonic BRCA1 Deletion Identified in Multiple Families ...
A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through ... identified a novel 26-kb deletion of BRCA1 exons 14 through 20 in patients from ...
jmd.amjpathol.org/cgi/content/full/7/1/139
A Multi-Exonic BRCA1 Deletion Identified in Multiple Families ...
deletion of BRCA1 exons 14 through 20 in patients. from multiple families with hereditary ... Figure 2. Schematic diagram of relevant regions of the BRCA1 locus. ...
jmd.amjpathol.org/cgi/reprint/7/1/139.pdf
Selecting for BRCA1 testing using a combination of ...
BRCA1 gene-related tumours are more frequently estrogen receptor (ER) ... The BRCA1 molecular analysis, including Multiplex Ligation-dependent Probe ...
biomedcentral.com/content/download/xml/1471-2407-9-360.xml
Comparison of BRCA1 polymorphisms, rare sequence variants and ...
Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. ... missense mutations M1008I, E1219D, R1347G, T1561I and M1628V were ...
www.ihop-net.org/UniPub/iHOP/gp/739851.html
MJM FOCUS
attributed to BRCA1 and BRCA2, options for cancer. prevention and ... In carriers of BRCA1 or BRCA2 mutations, estimates of the cumulative lifetime risk, by ...
www.medicine.mcgill.ca/mjm/v06n02/page 129-142.PDF
0108049
mutations of BRCA1 are predicted to result in gross truncation ... and R1347G). None of the. mutants in this group significantly affects BRCA1-mediated ...
www.broadinstitute.org/~anne/publications/Ye.pdf
Conservation of the BRCA1 Gene
Title of thesis: Conservation of the BRCA1 Gene. Name of author: Matthew Gary Wronkowski ... R1347G | 149. R841W | 114. M1008I | 105. 4184del4 | 105. R1443X | 103 ...
www.csh.rit.edu/~mattw/thesis/mwronkow-thesis-final.pdf

Other in silico analyses

NBLOSUM100 score = 6
GET-Evidence autoscore = 5

Edit history

May 25 2011 Madeleine Ball edited variant summary view
May 25 2011 Madeleine Ball edited article 8776600 summary view
May 25 2011 Madeleine Ball edited article 12215251 summary view
May 25 2011 Madeleine Ball edited variant summary view
May 25 2011 Madeleine Ball added article 8776600 view
May 25 2011 Madeleine Ball edited article 12215251 summary view
May 25 2011 Madeleine Ball edited variant summary view
May 25 2011 Madeleine Ball edited article 12215251 summary view
May 25 2011 Madeleine Ball edited variant summary view
May 25 2011 Madeleine Ball edited article 12215251 summary view
May 25 2011 Madeleine Ball edited variant summary view
May 25 2011 Madeleine Ball added article 12215251 view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
May 19 2010 Genome Importing Robot added variant view

BRCA1 R1347G - GET-Evidence