NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) AND Ataxia-telangiectasia syndrome

Clinical significance:Benign (Last evaluated: Dec 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000550304.5

Allele description [Variation Report for NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln)]

NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln)
Other names:
p.R1898Q:CGA>CAA
HGVS:
  • NC_000011.10:g.108307915G>A
  • NG_009830.1:g.90084G>A
  • NG_054724.1:g.166918C>T
  • NM_000051.3:c.5693G>A
  • NM_001351834.2:c.5693G>A
  • NP_000042.3:p.Arg1898Gln
  • NP_001338763.1:p.Arg1898Gln
  • LRG_135t1:c.5693G>A
  • LRG_135:g.90084G>A
  • LRG_135p1:p.Arg1898Gln
  • NC_000011.9:g.108178642G>A
  • p.R1898Q
Protein change:
R1898Q
Links:
dbSNP: rs370680798
NCBI 1000 Genomes Browser:
rs370680798
Molecular consequence:
  • NM_000051.3:c.5693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.5693G>A - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000622617Invitaecriteria provided, single submitter
Benign
(Dec 3, 2020)
germlineclinical testing

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

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, SCV000622617.5

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

Last Updated: Aug 11, 2021

Support Center