Submissions for variant NM_000038.6(APC):c.7143_7146del (p.Thr2382fs)

dbSNP: rs886039687

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000255086	SCV000322630	likely pathogenic	not provided	2020-11-06	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease Not observed in large population cohorts (Lek 2016) Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV001026088	SCV001188399	pathogenic	Hereditary cancer-predisposing syndrome	2019-03-20	criteria provided, single submitter	clinical testing	The c.7143_7146delAACA variant, located in coding exon 15 of the APC gene, results from a deletion of 4 nucleotides at nucleotide positions 7143 to 7146, causing a translational frameshift with a predicted alternate stop codon (p.T2382Vfs*19). 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.
Myriad Genetics, Inc.	RCV003337269	SCV004043492	pathogenic	Familial adenomatous polyposis 1	2023-05-16	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.