ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.67+2T>C (rs81002885)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113081 SCV000146096 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113081 SCV000327503 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113081 SCV000489568 pathogenic Breast-ovarian cancer, familial 2 2016-10-27 criteria provided, single submitter clinical testing
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000113081 SCV000804388 pathogenic Breast-ovarian cancer, familial 2 2017-10-04 criteria provided, single submitter provider interpretation This variant was identified in a 3 year old male with autism spectrum disorder, global developmental delay, hypotonia, and plagiocephaly, as a secondary finding. It was inherited from a healthy father who's family history includes several females with breast cancer. This variant has been reported in the literature and in ClinVar as a pathogenic variant, due to association with hereditary breast/ovarian cancer. The variant alters a canonical splice site.
Genologica Medica RCV000113081 SCV000577942 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000045024 SCV000073037 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the BRCA2 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 an individual and a family affected with breast/ovarian cancer (PMID: 12955716, 22798144). This variant is also known as IVS2+2T>C and 295+2T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 52163). Experimental studies have shown that this intronic change disrupts splicing and results in an mRNA product with exon 2 skipped (PMID: 22505045). Exon 2 contains the translational start site of BRCA2. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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