ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3624dup (p.Leu1209fs)

dbSNP: rs80357512
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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) RCV000112139 SCV000299979 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112139 SCV000325703 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585675 SCV000693528 pathogenic Hereditary breast ovarian cancer syndrome 2020-01-01 criteria provided, single submitter clinical testing This sequence change inserts one nucleotide in exon 10 of the BRCA1 mRNA (c.3624dupA), causing a frameshift at codon 1209. This creates a premature translational stop signal 10 amino acid residues later and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 54941).
Color Diagnostics, LLC DBA Color Health RCV000775155 SCV000909296 pathogenic Hereditary cancer-predisposing syndrome 2022-07-11 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant is also known as 3741insA in the literature. This variant has been reported in more than 5 individuals affected with breast and/or ovarian cancer (PMID: 30713775, 32658311; BIC database accession number 2745; Color internal data). This variant has also been reported in families affected with suspected hereditary breast and ovarian cancer syndrome and in 3 families among the CIMBA participants (PMID: 11802209, 29446198, 31851867). 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 (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Invitae RCV000585675 SCV004296817 pathogenic Hereditary breast ovarian cancer syndrome 2024-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1209Ilefs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 10980541). This variant is also known as 3741insA, ter 1218. ClinVar contains an entry for this variant (Variation ID: 54941). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112139 SCV000144814 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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