ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9513_9516del (p.Leu3172fs) (rs80359769)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509921 SCV000608265 pathogenic Hereditary cancer-predisposing syndrome 2017-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000114129 SCV000147662 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000509921 SCV000684068 pathogenic Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000114129 SCV000301399 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000237083 SCV000293315 likely pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.9513_9516delACTT at the cDNA level and p.Leu3172AlafsX44 (L3172AfsX44) at the protein level. The normal sequence, with the bases that are deleted in braces, is ACAT[ACTT]TGCA. The deletion causes a frameshift, which changes a Leucine to an Alanine at codon 3172, and creates a premature stop codon at position 44 of the new reading frame. Even though this frameshift occurs in the second to last exon of the gene, and nonsense-mediated decay is not expected to occur, it is significant since the last 247 amino acids are no longer translated correctly and is predicted to cause loss of normal protein function through protein truncation. BRCA2 c.9513_9516delACTT has been observed in at least one individual with prostate cancer (Hart 2016). Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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