NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Oct 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001258064.1

Allele description [Variation Report for NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)]

NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)

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.3049C>T (p.Gln1017Ter)
Other names:
p.Q1017*:CAG>TAG
HGVS:
  • NC_000011.10:g.108271378C>T
  • NG_009830.1:g.53547C>T
  • NM_000051.4:c.3049C>TMANE SELECT
  • NM_001351834.2:c.3049C>T
  • NP_000042.3:p.Gln1017Ter
  • NP_000042.3:p.Gln1017Ter
  • NP_001338763.1:p.Gln1017Ter
  • LRG_135t1:c.3049C>T
  • LRG_135:g.53547C>T
  • LRG_135p1:p.Gln1017Ter
  • NC_000011.9:g.108142105C>T
  • NM_000051.3:c.3049C>T
  • p.Q1017*
Protein change:
Q1017*
Links:
dbSNP: rs730881388
NCBI 1000 Genomes Browser:
rs730881388
Molecular consequence:
  • NM_000051.4:c.3049C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.3049C>T - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Breast cancer, susceptibility to
Identifiers:
MedGen: C3469522

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434895Human Genome Sequencing Center Clinical Lab, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenic
(Oct 8, 2018)
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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.3049C>T (p.Gln1017*) variant in the ATM gene is predicted to introduce a premature translation termination codon. This variant has not been reported in the gnomAD database. Therefore, the c.3049C>T (p.Gln1017*) variant in the ATM gene is classified as likely pathogenic.

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

Last Updated: Dec 4, 2021

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