Submissions for variant NM_000465.4(BARD1):c.716del (p.Leu239fs)

dbSNP: rs2106110871

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001382608	SCV001581449	pathogenic	Familial cancer of breast	2023-12-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu239Argfs*16) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070465). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV003169946	SCV003854328	pathogenic	Hereditary cancer-predisposing syndrome	2022-12-15	criteria provided, single submitter	clinical testing	The c.716delT pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from a deletion of one nucleotide at nucleotide position 716, causing a translational frameshift with a predicted alternate stop codon (p.L239Rfs*16). 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.
Baylor Genetics	RCV001382608	SCV004217348	likely pathogenic	Familial cancer of breast	2021-07-19	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001382608	SCV005083706	pathogenic	Familial cancer of breast	2024-06-27	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.