ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)

dbSNP: rs80357455
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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) RCV000112136 SCV000299976 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Color Diagnostics, LLC DBA Color Health RCV001180644 SCV001345621 pathogenic Hereditary cancer-predisposing syndrome 2019-11-25 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV001383056 SCV001582075 pathogenic Hereditary breast ovarian cancer syndrome 2018-10-17 criteria provided, single submitter clinical testing 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: 54938). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1207*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV001180644 SCV002617487 pathogenic Hereditary cancer-predisposing syndrome 2021-04-02 criteria provided, single submitter clinical testing The p.K1207* pathogenic mutation (also known as c.3619A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3619. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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.
Revvity Omics, Revvity Omics RCV003137589 SCV003818467 likely pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112136 SCV000144811 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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