NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001021947.1

Allele description [Variation Report for NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)]

NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)

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.4148C>A (p.Ser1383Ter)
HGVS:
  • NC_000011.10:g.108289015C>A
  • NG_009830.1:g.71184C>A
  • NM_000051.4:c.4148C>AMANE SELECT
  • NM_001351834.2:c.4148C>A
  • NP_000042.3:p.Ser1383Ter
  • NP_000042.3:p.Ser1383Ter
  • NP_001338763.1:p.Ser1383Ter
  • LRG_135t1:c.4148C>A
  • LRG_135:g.71184C>A
  • LRG_135p1:p.Ser1383Ter
  • NC_000011.9:g.108159742C>A
  • NM_000051.3:c.4148C>A
Protein change:
S1383*
Links:
dbSNP: rs141087784
NCBI 1000 Genomes Browser:
rs141087784
Molecular consequence:
  • NM_000051.4:c.4148C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.4148C>A - 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
SCV001183627Ambry Geneticscriteria provided, single submitter
Pathogenic
(Dec 11, 2017)
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

The ATM gene and breast cancer: is it really a risk factor?

Angèle S, Hall J.

Mutat Res. 2000 Apr;462(2-3):167-78. Review.

PubMed [citation]
PMID:
10767628

Details of each submission

From Ambry Genetics, SCV001183627.2

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

Description

The p.S1383* pathogenic mutation (also known as c.4148C>A), located in coding exon 27 of the ATM gene, results from a C to A substitution at nucleotide position 4148. This changes the amino acid from a serine to a stop codon within coding exon 27. 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: Dec 4, 2021

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