ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter) (rs80358951)

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Total submissions: 7
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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) RCV000113736 SCV000301144 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000217367 SCV000277904 pathogenic Hereditary cancer-predisposing syndrome 2018-11-23 criteria provided, single submitter clinical testing The p.S2414* pathogenic mutation (also known as c.7241C>G), located in coding exon 13 of the BRCA2 gene, results from a C to G substitution at nucleotide position 7241. This changes the amino acid from a serine to a stop codon within coding exon 13. 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.
GeneDx RCV000482316 SCV000570832 pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7241C>G at the cDNA level and p.Ser2414Ter (S2414X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 7469C>G. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Counsyl RCV000113736 SCV000785525 likely pathogenic Breast-ovarian cancer, familial 2 2017-09-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482316 SCV000887908 pathogenic not provided 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV001389019 SCV001590223 pathogenic Hereditary breast and ovarian cancer syndrome 2019-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2414*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 52296). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113736 SCV000147056 pathogenic Breast-ovarian cancer, familial 2 2014-01-07 no assertion criteria provided clinical testing

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