NM_000051.4(ATM):c.7880del (p.Tyr2627fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 2019
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:: RCV000657502.11

Allele description [Variation Report for NM_000051.4(ATM):c.7880del (p.Tyr2627fs)]

NM_000051.4(ATM):c.7880del (p.Tyr2627fs)

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.7880del (p.Tyr2627fs)

HGVS:

NC_000011.10:g.108332853del
NG_009830.1:g.115022del
NG_054724.1:g.141980del
NM_000051.4:c.7880delMANE SELECT
NM_001330368.2:c.641-23782del
NM_001351110.2:c.*38+2367del
NM_001351834.2:c.7880del
NP_000042.3:p.Tyr2627Leufs
NP_000042.3:p.Tyr2627fs
NP_001338763.1:p.Tyr2627fs
LRG_135t1:c.7880del
LRG_135:g.115022del
NC_000011.9:g.108203580del
NM_000051.3:c.7880del
NM_000051.3:c.7880delA

Protein change:

Y2627fs

Links:

dbSNP: rs1057516599

NCBI 1000 Genomes Browser:

rs1057516599

Molecular consequence:

NM_000051.4:c.7880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001351834.2:c.7880del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330368.2:c.641-23782del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*38+2367del - 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
SCV000779237	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 16, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779237

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Sep 16, 2019)

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, SCV000779237.4

#	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 a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29922827)

#	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: Nov 10, 2024

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