NM_000051.4(ATM):c.3764dup (p.Leu1255fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 29, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000479369.1

Allele description [Variation Report for NM_000051.4(ATM):c.3764dup (p.Leu1255fs)]

NM_000051.4(ATM):c.3764dup (p.Leu1255fs)

Gene:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.3764dup (p.Leu1255fs)

HGVS:

NC_000011.10:g.108284244dup
NG_009830.1:g.66413dup
NM_000051.4:c.3764dupMANE SELECT
NM_001351834.2:c.3764dup
NP_000042.3:p.Leu1255fs
NP_000042.3:p.Leu1255fs
NP_001338763.1:p.Leu1255fs
LRG_135t1:c.3764dup
LRG_135:g.66413dup
LRG_135p1:p.Leu1255fs
NC_000011.9:g.108154967_108154968insT
NC_000011.9:g.108154971dup
NM_000051.3:c.3764dup
NM_000051.3:c.3764dupT

Protein change:

L1255fs

Links:

dbSNP: rs1555093303

NCBI 1000 Genomes Browser:

rs1555093303

Molecular consequence:

NM_000051.4:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.3764dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571836	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 29, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571836

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 29, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000571836.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This duplication of one nucleotide in ATM is denoted c.3764dupT at the cDNA level and p.Leu1255PhefsX8 (L1255FfsX8) at the protein level. The normal sequence, with the base that is duplicated in braces, is GTTT[T]GATT. The duplication causes a frameshift which changes a Leucine to a Phenylalanine at codon 1255, and creates a premature stop codon at position 8 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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