ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)

dbSNP: rs886040557
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000256999 SCV000324288 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Genetic Predisposition to Colorectal Cancer Group, Institut d’Investigacions Biomediques August Pi i Sunyer RCV000416891 SCV000262601 likely pathogenic Carcinoma of colon 2015-11-01 criteria provided, single submitter clinical testing Variant detected by whole exome sequencing in a family presenting aggregation mainly for colorectal cancer but also for breast cancer, uterine cancer and prostate cancer
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256999 SCV000327112 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580499 SCV000683663 pathogenic Hereditary cancer-predisposing syndrome 2022-02-23 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in 1 individual affected with colorectal cancer with a family history of BRCA2-related cancers (PMID: 27165003). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Mendelics RCV000256999 SCV001139098 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2024-03-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781615 SCV002023585 pathogenic not provided 2021-09-21 criteria provided, single submitter clinical testing

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