Submissions for variant NM_000051.4(ATM):c.5544T>C (p.Asp1848=)

gnomAD frequency: 0.00001  dbSNP: rs146568734

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen	RCV002221502	SCV002499274	likely benign	Familial cancer of breast	2022-03-09	reviewed by expert panel	curation	The ATM c.5544T>C (p.Asp1848=) variant is not predicted to impact splicing in multiple RNA in silico tools (BP4). This variant creates a synonymous change (BP7). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria applied as specified by the HBOP Variant Curation Expert Panel.
Ambry Genetics	RCV000164288	SCV000214915	likely benign	Hereditary cancer-predisposing syndrome	2015-06-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001494817	SCV001699482	likely benign	Ataxia-telangiectasia syndrome	2022-06-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV002221502	SCV005083180	benign	Familial cancer of breast	2024-05-23	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.