Submissions for variant NM_000059.4(BRCA2):c.6164del (p.Phe2055fs)

dbSNP: rs397507831

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000239163	SCV000300991	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000044858	SCV000072871	pathogenic	Hereditary breast ovarian cancer syndrome	2022-12-02	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 52022). This variant is also known as 6392delT. This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 22682623). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe2055Serfs*15) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000239163	SCV000296648	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-07-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528513	SCV001740369	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528513	SCV001968867	pathogenic	not provided		no assertion criteria provided	clinical testing