ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) (rs80358530)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130266 SCV000185110 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113089 SCV000146105 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000130266 SCV000911451 likely benign Hereditary cancer-predisposing syndrome 2018-01-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585963 SCV000694624 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2771A>T (p.Asn924Ile) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant. This variant was found in 2/120770 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been reported in affected individuals in the literature, without strong evidence for causality. The variant has been reported to co-occur with two pathogenic BRCA1 mutations: AJ founder mutation BRCA1 c.68_69delAG (p.Glu23ValfsX17) from UMD and an exon 8-11 deletion from an internal LCA sample. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as has been classified as a VUS-possibly benign until additional clinical and functional data becomes available.
Invitae RCV000044052 SCV000072065 benign Hereditary breast and ovarian cancer syndrome 2017-11-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113089 SCV000297515 likely benign Breast-ovarian cancer, familial 2 2011-02-18 no assertion criteria provided clinical testing

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