NM_000051.4(ATM):c.6452+2T>C AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 23, 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:: RCV000481420.10

Allele description [Variation Report for NM_000051.4(ATM):c.6452+2T>C]

NM_000051.4(ATM):c.6452+2T>C

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.6452+2T>C

HGVS:

NC_000011.10:g.108320060T>C
NG_009830.1:g.102229T>C
NG_054724.1:g.154773A>G
NM_000051.4:c.6452+2T>CMANE SELECT
NM_001330368.2:c.641-10989A>G
NM_001351110.2:c.*39-10989A>G
NM_001351834.2:c.6452+2T>C
LRG_135t1:c.6452+2T>C
LRG_135:g.102229T>C
NC_000011.9:g.108190787T>C
NM_000051.3:c.6452+2T>C

Links:

dbSNP: rs1064795006

NCBI 1000 Genomes Browser:

rs1064795006

Molecular consequence:

NM_001330368.2:c.641-10989A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.*39-10989A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000051.4:c.6452+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001351834.2:c.6452+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000570385	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (May 23, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000570385

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(May 23, 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, SCV000570385.4

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

Description

This variant is denoted ATM c.6452+2T>C or IVS44+2T>C and consists of a T>C nucleotide substitution at the +2 position of intron 44 of the ATM gene. This particular variant has not, to our knowledge, been published in the literature. Although this variant destroys a canonical splice donor site and is predicted to cause abnormal splicing of exon 44, the skipping of exon 44 is predicted to be an in-frame event. Since the rest of the protein is expected to be translated and the loss of this one exon may or may not inhibit proper protein functioning, the clinical significance of ATM c.6452+2T>C remains unclear at this time. Based on the currently available information, we consider ATM c.6452+2T>C to be a variant of uncertain significance.

#	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 3, 2024

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