NM_000051.4(ATM):c.7929delA (p.Gly2644fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 2, 2024
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:: RCV000478885.11

Allele description [Variation Report for NM_000051.4(ATM):c.7929delA (p.Gly2644fs)]

NM_000051.4(ATM):c.7929delA (p.Gly2644fs)

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.7929delA (p.Gly2644fs)

HGVS:

NC_000011.10:g.108333887del
NG_009830.1:g.116056del
NG_054724.1:g.140947del
NM_000051.4:c.7929delAMANE SELECT
NM_001330368.2:c.641-24815del
NM_001351110.2:c.*38+1334del
NM_001351834.2:c.7929delA
NP_000042.3:p.Gly2644Alafs
NP_000042.3:p.Gly2644fs
NP_001338763.1:p.Gly2644fs
LRG_135t1:c.7929del
LRG_135:g.116056del
NC_000011.9:g.108204613del
NC_000011.9:g.108204614del
NM_000051.3:c.7929del
NM_000051.3:c.7929delA

Protein change:

G2644fs

Links:

dbSNP: rs1064795550

NCBI 1000 Genomes Browser:

rs1064795550

Molecular consequence:

NM_000051.4:c.7929delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.7929delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-24815del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+1334del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000571472	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 2, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571472

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jan 2, 2024)

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, SCV000571472.5

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25614872, 23807571)

#	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: Oct 8, 2024

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