U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 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:
RCV000258960.10

Allele description [Variation Report for NM_000051.4(ATM):c.8146G>T (p.Val2716Phe)]

NM_000051.4(ATM):c.8146G>T (p.Val2716Phe)

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.8146G>T (p.Val2716Phe)
Other names:
p.V2716F:GTT>TTT
HGVS:
  • NC_000011.10:g.108335104G>T
  • NG_009830.1:g.117273G>T
  • NG_054724.1:g.139729C>A
  • NM_000051.4:c.8146G>TMANE SELECT
  • NM_001330368.2:c.641-26033C>A
  • NM_001351110.2:c.*38+116C>A
  • NM_001351834.2:c.8146G>T
  • NP_000042.3:p.Val2716Phe
  • NP_000042.3:p.Val2716Phe
  • NP_001338763.1:p.Val2716Phe
  • LRG_135t1:c.8146G>T
  • LRG_135:g.117273G>T
  • LRG_135p1:p.Val2716Phe
  • NC_000011.9:g.108205831G>T
  • NM_000051.3:c.8146G>T
Protein change:
V2716F
Links:
dbSNP: rs730881385
NCBI 1000 Genomes Browser:
rs730881385
Molecular consequence:
  • NM_001330368.2:c.641-26033C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+116C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8146G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.8146G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209769GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 23, 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, SCV000209769.8

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

Description

The V2716F variant in the ATM gene has not been reported previously as a disease-causing variant nor as a benign polymorphism, to our knowledge. However, a different missense variant at this residue (V2716A) has been reported in association with ataxia-telangiectasia (Scott et al., 2002). The V2716F variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V2716F variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is well-conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (D2708N; D2708E; R2719H; A2726V) have been reported in association with ataxia-telangiectasia, supporting the functional importance of this region of the protein. We interpret V2716F as a disease-causing variant associated with ataxia-telangiectasia.

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

Last Updated: Apr 20, 2024