Submissions for variant NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)

dbSNP: rs1060501587

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457961	SCV000546799	pathogenic	Ataxia-telangiectasia syndrome	2023-12-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asn1081Ilefs*27) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 407535). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV001019392	SCV001180742	pathogenic	Hereditary cancer-predisposing syndrome	2019-09-24	criteria provided, single submitter	clinical testing	The c.3242_3245delATCA pathogenic mutation, located in coding exon 21 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 3242 to 3245, causing a translational frameshift with a predicted alternate stop codon (p.N1081Ifs*27). 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	RCV003463881	SCV004217149	likely pathogenic	Familial cancer of breast	2024-03-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003463881	SCV004933752	pathogenic	Familial cancer of breast	2024-01-19	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.