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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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570385GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 23, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000570385.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024