NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely benign (Last evaluated: Dec 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000231221.9

Allele description [Variation Report for NM_000051.3(ATM):c.7988T>C (p.Val2663Ala)]

NM_000051.3(ATM):c.7988T>C (p.Val2663Ala)

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_000051.3(ATM):c.7988T>C (p.Val2663Ala)
Other names:
p.V2663A:GTT>GCT
HGVS:
  • NC_000011.10:g.108333946T>C
  • NG_009830.1:g.116115T>C
  • NG_054724.1:g.140887A>G
  • NM_000051.3:c.7988T>C
  • NM_001330368.2:c.641-24875A>G
  • NM_001351110.2:c.38+1274A>G
  • NM_001351834.2:c.7988T>C
  • NP_000042.3:p.Val2663Ala
  • NP_001338763.1:p.Val2663Ala
  • LRG_135t1:c.7988T>C
  • LRG_135:g.116115T>C
  • LRG_135p1:p.Val2663Ala
  • NC_000011.9:g.108204673T>C
Protein change:
V2663A
Links:
dbSNP: rs377648506
NCBI 1000 Genomes Browser:
rs377648506
Molecular consequence:
  • NM_001330368.2:c.641-24875A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.38+1274A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.3:c.7988T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7988T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000283068Invitaecriteria provided, single submitter
Likely benign
(Dec 4, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001462597Natera, Inc.no assertion criteria providedUncertain significance
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000283068.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001462597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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