Submissions for variant NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs)

dbSNP: rs1064793031

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000478387	SCV000564608	pathogenic	not provided	2015-02-13	criteria provided, single submitter	clinical testing	This combined deletion and insertion is denoted ATM c.561_562delGGinsT at the cDNA level and p.Ala188LeufsX3 (A188LfsX3) at the protein level. The normal sequence, with the bases that are deleted and inserted in brackets, is TAGT[delGGinsT]CTAG. This variant causes a frameshift, which changes an Alanine to a Leucine at codon 188, and creates a premature stop codon at position 3 of the new reading frame. Although ATM c.561_562delGGinsT has not been previously reported to our knowledge, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay and is considered pathogenic.The presence of
Ambry Genetics	RCV002350048	SCV002654159	pathogenic	Hereditary cancer-predisposing syndrome	2021-05-08	criteria provided, single submitter	clinical testing	The c.561_562delGGinsT pathogenic mutation, located in coding exon 5 of the ATM gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.A188Lfs*3). 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.	RCV004023101	SCV004933701	pathogenic	Familial cancer of breast	2024-01-09	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.