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NM_000051.4(ATM):c.2579A>T (p.Asp860Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 2017
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:
RCV000479651.2

Allele description [Variation Report for NM_000051.4(ATM):c.2579A>T (p.Asp860Val)]

NM_000051.4(ATM):c.2579A>T (p.Asp860Val)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)
HGVS:
  • NC_000011.10:g.108267283A>T
  • NG_009830.1:g.49452A>T
  • NM_000051.4:c.2579A>TMANE SELECT
  • NM_001351834.2:c.2579A>T
  • NP_000042.3:p.Asp860Val
  • NP_000042.3:p.Asp860Val
  • NP_001338763.1:p.Asp860Val
  • LRG_135t1:c.2579A>T
  • LRG_135:g.49452A>T
  • LRG_135p1:p.Asp860Val
  • NC_000011.9:g.108138010A>T
  • NM_000051.3:c.2579A>T
Protein change:
D860V
Links:
dbSNP: rs761251711
NCBI 1000 Genomes Browser:
rs761251711
Molecular consequence:
  • NM_000051.4:c.2579A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2579A>T - 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
SCV000567485GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 25, 2017) 		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, SCV000567485.5

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

Description

This variant is denoted ATM c.2579A>T at the cDNA level, p.Asp860Val (D860V) at the protein level, and results in the change of an Aspartic Acid to a Valine (GAT>GTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Asp860Val was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Aspartic Acid and Valine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Asp860Val occurs at a position where amino acids with properties similar to Aspartic Acid are tolerated across species and is not located in a known functional domain. 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 Asp860Val is a pathogenic or benign variant. 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: Mar 10, 2024