NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 2, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000159761.5

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_000051.3:c.3049C>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
  • p.Q1017*
Protein change:
Q1017*
Links:
dbSNP: rs730881388
NCBI 1000 Genomes Browser:
rs730881388
Molecular consequence:
  • NM_000051.3:c.3049C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000051.4:c.3049C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.3049C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000216002Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jul 2, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.

Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Erratum in: Genet Med. 2016 May;18(5):531-2.

PubMed [citation]
PMID:
26681312
PMCID:
PMC4985612

Details of each submission

From Ambry Genetics, SCV000216002.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Q1017* pathogenic mutation (also known as c.3049C>T), located in coding exon 19 of the ATM gene, results from a C to T substitution at nucleotide position 3049. This changes the amino acid from a glutamine to a stop codon within coding exon 19. This alteration was identified in 1/10030 consecutive patients referred for evaluation by an NGS hereditary cancer panel (Susswein LR et al. Genet. Med., 2016 08;18:823-32). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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