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NM_000051.4(ATM):c.2662G>C (p.Glu888Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 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:
RCV000480752.1

Allele description [Variation Report for NM_000051.4(ATM):c.2662G>C (p.Glu888Gln)]

NM_000051.4(ATM):c.2662G>C (p.Glu888Gln)

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.2662G>C (p.Glu888Gln)
HGVS:
  • NC_000011.10:g.108268433G>C
  • NG_009830.1:g.50602G>C
  • NM_000051.4:c.2662G>CMANE SELECT
  • NM_001351834.2:c.2662G>C
  • NP_000042.3:p.Glu888Gln
  • NP_000042.3:p.Glu888Gln
  • NP_001338763.1:p.Glu888Gln
  • LRG_135t1:c.2662G>C
  • LRG_135:g.50602G>C
  • LRG_135p1:p.Glu888Gln
  • NC_000011.9:g.108139160G>C
  • NM_000051.3:c.2662G>C
Protein change:
E888Q
Links:
dbSNP: rs879254083
NCBI 1000 Genomes Browser:
rs879254083
Molecular consequence:
  • NM_000051.4:c.2662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2662G>C - 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
SCV000569243GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jan 23, 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, SCV000569243.3

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

Description

This variant is denoted ATM c.2662G>C at the cDNA level, p.Glu888Gln (E888Q) at the protein level, and results in the change of a Glutamic Acid to a Glutamine (GAA>CAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Glu888Gln 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 Glutamic Acid and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. ATM Glu888Gln occurs at a position where amino acids with properties similar to Glutamic Acid are tolerated across species and is not located in a known functional domain (Tavtigian 2009, Stracker 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether ATM Glu888Gln 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