ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5075-1G>A (rs1800747)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480623 SCV000564746 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5075-1G>A or IVS16-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 5194-1G>A and IVS17-1G>A using alternate nomenclature, has been reported in individuals suspected of having hereditary breast/ovarian cancer as well as in at least one individual with metastatic prostate cancer (Jara 2006, Pritchard 2016, Apessos 2018, Wang 2018). We consider this variant to be pathogenic.
Yang An-Suei Laboratory,Academia Sinica RCV000504600 SCV000575770 pathogenic Breast neoplasm criteria provided, single submitter research
Counsyl RCV000112485 SCV000677656 likely pathogenic Breast-ovarian cancer, familial 1 2017-05-04 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579615 SCV000683249 likely pathogenic Hereditary cancer-predisposing syndrome 2019-03-31 criteria provided, single submitter clinical testing
GeneKor MSA RCV000585700 SCV000693543 pathogenic Familial cancer of breast 2020-01-01 criteria provided, single submitter clinical testing This variant is a substitution of the last nucleotide of intron 17 of the BRCA gene. This particular position is highly conserved in human as well as in other genomes. It is expected that this variant affects the correct mRNA splicing and results in the deletion of an entire exon. This causes the formation of a truncated non functional protein. This mutation has been described in breast cancer patients (PMID: 16616110). This particular variant has been described in the mutation database ClinVar (Variation ID: 55377/)
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000496384 SCV000966916 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-02-01 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
CeGaT Praxis fuer Humangenetik Tuebingen RCV000480623 SCV001501175 pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV000496384 SCV001585896 pathogenic Hereditary breast and ovarian cancer syndrome 2020-08-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individual(s) with metastatic prostate cancer and in individual(s) with a personal or family history of breast and ovarian cancer (PMID: 27433846, 12402332, 29566657). This variant is also known as IVS17-1G>A. ClinVar contains an entry for this variant (Variation ID: 55377). Experimental studies have shown that disruption of this splice site affects mRNA splicing (PMID: 30209399, 24667779). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112485 SCV000145296 pathogenic Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496384 SCV000587455 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Brotman Baty Institute,University of Washington RCV000112485 SCV001244048 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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