| Geno
|
Mag
|
Summary
|
| (A;C)
|
6
|
considered a causal BRCA2 breast cancer mutation
|
| (C;C)
|
0
|
common in clinvar
|
| (C;G)
|
6
|
BRCA2 variant considered pathogenic for breast cancer
|
rs41293497 is a BRCA2 gene variant, with at least two variant alleles: C>G and C>A. [The C>T variant is also possible, however it is a synonymous change that is considered benign.] Alternative names for the pathogenic alleles include Tyr1894Ter, Y1894X, 5910C>G, and 5910C>A.
Both the C>G and C>A variants are listed as causal breast cancer mutations in UMD, and as pathogenic by most submitters to ClinVar.
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
In addition to presenting rs41293497, 23andMe has an additional C>G SNP at this position known as i5009383 on some of its microarrays.
| ClinVar
|
| Risk
|
rs41293497(A;A) rs41293497(G;G) rs41293497(T;T) |
| Alt
|
rs41293497(A;A) rs41293497(G;G) rs41293497(T;T) |
| Reference
|
Rs41293497(C;C) |
| Significance |
Pathogenic |
| Disease |
Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Ovarian cancer not provided not specified |
| Variation | info |
|---|
| Gene |
BRCA2 |
| CLNDBN |
Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Ovarian cancer not provided not specified |
| Reversed |
0 |
| HGVS |
NC_000013.10:g.32914174C>A; NC_000013.10:g.32914174C>G; NC_000013.10:g.32914174C>T |
| CLNSRC |
Ambry Genetics ClinVar University of Washington |
| CLNACC |
RCV000113461.3, RCV000131119.3, RCV000031570.10, RCV000044719.7, RCV000131121.3, RCV000148424.1, RCV000160095.4, RCV000122918.3, RCV000163780.1, RCV000419269.1, |
]
