ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)

dbSNP: rs1555580900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662943 SCV000785904 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000817103 SCV000957645 pathogenic Hereditary breast ovarian cancer syndrome 2018-09-04 criteria provided, single submitter clinical testing 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 has been observed in an individual affected with hereditary cancer (PMID: 24307375). This variant is also known as c.4806del, p.Gln1604Asnfs*2 in the literature. ClinVar contains an entry for this variant (Variation ID: 548837). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1604Asnfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV004948554 SCV005550036 pathogenic Hereditary cancer-predisposing syndrome 2024-07-01 criteria provided, single submitter clinical testing The c.4810delC pathogenic mutation, located in coding exon 14 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4810, causing a translational frameshift with a predicted alternate stop codon (p.Q1604Nfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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