NM_000051.4(ATM):c.2639-22_2639-20del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 19, 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:: RCV002284401.10

Allele description [Variation Report for NM_000051.4(ATM):c.2639-22_2639-20del]

NM_000051.4(ATM):c.2639-22_2639-20del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.2639-22_2639-20del

HGVS:

NC_000011.10:g.108268388_108268390del
NG_009830.1:g.50557_50559del
NM_000051.4:c.2639-22_2639-20delMANE SELECT
NM_001351834.2:c.2639-22_2639-20del
LRG_135:g.50557_50559del
NC_000011.9:g.108139114_108139116del
NC_000011.9:g.108139115_108139117del
NM_000051.3:c.2639-22_2639-20delAAT

Links:

dbSNP: rs1064795554

NCBI 1000 Genomes Browser:

rs1064795554

Molecular consequence:

NM_000051.4:c.2639-22_2639-20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001351834.2:c.2639-22_2639-20del - 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
SCV000571480	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571480

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 19, 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, SCV000571480.7

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

Description

Non-canonical splice site variant demonstrated to cause aberrant splicing predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease (PMID: 37438524); Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS19-22_IVS19-20del; This variant is associated with the following publications: (PMID: 12552559, 37438524, 26896183)

#	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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