ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) (rs80358624)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203673 SCV000072284 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130732 SCV000185623 likely benign Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
GeneDx RCV000044271 SCV000210596 likely benign not specified 2017-11-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000083100 SCV000489068 uncertain significance Breast-ovarian cancer, familial 2 2016-08-12 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044271 SCV000591876 uncertain significance not specified 2015-03-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588689 SCV000694720 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.3814A>G (p.Met1272Val) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in the large control database ExAC at a frequency of 0.0000191 (2/104976 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been observed in affected individuals in the literature without strong evidence for causality (such as co-occurrence and cosegregation data). In ClinVar, multiple clinical diagnostic laboratories/reputable databases have classified this variant with different interpretations, including uncertain significance and likely benign. Taken together, this variant is classified as VUS.
Color RCV000130732 SCV000910980 benign Hereditary cancer-predisposing syndrome 2017-05-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083100 SCV000115174 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083100 SCV000146302 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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