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NM_000051.4(ATM):c.2818A>G (p.Lys940Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 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:
RCV000479895.1

Allele description [Variation Report for NM_000051.4(ATM):c.2818A>G (p.Lys940Glu)]

NM_000051.4(ATM):c.2818A>G (p.Lys940Glu)

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.2818A>G (p.Lys940Glu)
HGVS:
  • NC_000011.10:g.108268589A>G
  • NG_009830.1:g.50758A>G
  • NM_000051.4:c.2818A>GMANE SELECT
  • NM_001351834.2:c.2818A>G
  • NP_000042.3:p.Lys940Glu
  • NP_000042.3:p.Lys940Glu
  • NP_001338763.1:p.Lys940Glu
  • LRG_135t1:c.2818A>G
  • LRG_135:g.50758A>G
  • LRG_135p1:p.Lys940Glu
  • NC_000011.9:g.108139316A>G
  • NM_000051.3:c.2818A>G
Protein change:
K940E
Links:
dbSNP: rs1064795896
NCBI 1000 Genomes Browser:
rs1064795896
Molecular consequence:
  • NM_000051.4:c.2818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2818A>G - 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
SCV000572128GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 11, 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, SCV000572128.4

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

Description

This variant is denoted ATM c.2818A>G at the cDNA level, p.Lys940Glu (K940E) at the protein level, and results in the change of a Lysine to a Glutamic Acid (AAA>GAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Lys940Glu was not observed in large population cohorts (Lek 2016). Since Lysine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. ATM Lys940Glu is not located in a known functional domain. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether ATM Lys940Glu 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: Sep 29, 2024