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NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 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:
RCV000480424.9

Allele description [Variation Report for NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)]

NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)

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.6392C>A (p.Ala2131Asp)
HGVS:
  • NC_000011.10:g.108319998C>A
  • NG_009830.1:g.102167C>A
  • NG_054724.1:g.154835G>T
  • NM_000051.4:c.6392C>AMANE SELECT
  • NM_001330368.2:c.641-10927G>T
  • NM_001351110.2:c.*39-10927G>T
  • NM_001351834.2:c.6392C>A
  • NP_000042.3:p.Ala2131Asp
  • NP_000042.3:p.Ala2131Asp
  • NP_001338763.1:p.Ala2131Asp
  • LRG_135t1:c.6392C>A
  • LRG_135:g.102167C>A
  • LRG_135p1:p.Ala2131Asp
  • NC_000011.9:g.108190725C>A
  • NM_000051.3:c.6392C>A
Protein change:
A2131D
Links:
dbSNP: rs1060501594
NCBI 1000 Genomes Browser:
rs1060501594
Molecular consequence:
  • NM_001330368.2:c.641-10927G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-10927G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.6392C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.6392C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569635GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 16, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569635.3

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

Description

This variant is denoted ATM c.6392C>A at the cDNA level, p.Ala2131Asp (A2131D) at the protein level, and results in the change of an Alanine to an Aspartic Acid (GCT>GAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Ala2131Asp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Alanine and Aspartic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Ala2131Asp occurs at a position that is conserved in mammals and is located in the within FAT domain (Tavtigian 2009, Stracker 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether ATM Ala2131Asp is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Jun 29, 2024