Submissions for variant NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)

dbSNP: rs587780035

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000221541	SCV000273537	pathogenic	Hereditary cancer-predisposing syndrome	2020-06-22	criteria provided, single submitter	clinical testing	The p.Q237* pathogenic mutation (also known as c.709C>T), located in coding exon 4 of the BARD1 gene, results from a C to T substitution at nucleotide position 709. This changes the amino acid from a glutamine to a stop codon within coding exon 4. 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.
GeneDx	RCV000486426	SCV000570925	pathogenic	not provided	2016-07-11	criteria provided, single submitter	clinical testing	This pathogenic variant is denoted BARD1 c.709C>T at the cDNA level and p.Gln237Ter (Q237X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Myriad Genetics, Inc.	RCV003335240	SCV004043601	pathogenic	Familial cancer of breast	2023-05-19	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.