ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val)

gnomAD frequency: 0.00001  dbSNP: rs377123889
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129405 SCV000184174 likely benign Hereditary cancer-predisposing syndrome 2018-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000585947 SCV000695251 uncertain significance not specified 2019-08-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9547A>G (p.Ile3183Val) results in a conservative amino acid change located in the BRCA2, OB3 domain (IPR015188) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251384 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.9547A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) classified the variant as Likely benign (2x) and Benign (1x). Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000637985 SCV000759465 likely benign Hereditary breast ovarian cancer syndrome 2024-02-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129405 SCV000906822 benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129405 SCV002532045 benign Hereditary cancer-predisposing syndrome 2020-08-26 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004804095 SCV005425859 benign BRCA2-related cancer predisposition 2024-05-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083004 SCV000115078 benign Breast-ovarian cancer, familial, susceptibility to, 2 2010-09-28 no assertion criteria provided clinical testing

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