ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6211del (p.Ser2071fs)

dbSNP: rs431825338
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Total submissions: 5
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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) RCV000082955 SCV000301000 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000238665 SCV000296826 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This is a deletion of 1 base pair, which results in frameshift and creation of a stop codon 10 amino acid residues later. It is expected to result in a truncated, non-functional protein.
Ambry Genetics RCV001025014 SCV001187123 pathogenic Hereditary cancer-predisposing syndrome 2019-03-07 criteria provided, single submitter clinical testing The c.6211delA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 6211, causing a translational frameshift with a predicted alternate stop codon (p.S2071Vfs*10). This alteration has been previously described in a German woman with a personal and family history of breast cancer (Kraus C et al. Int. J. Cancer. 2017 Jan;140:95-102). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003529982 SCV004295922 pathogenic Hereditary breast ovarian cancer syndrome 2023-01-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 96834). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 27616075, 35731312). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2071Valfs*10) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Sharing Clinical Reports Project (SCRP) RCV000082955 SCV000115029 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2007-11-29 no assertion criteria provided clinical testing

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