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NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000493032.12

Allele description [Variation Report for NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)]

NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
Indel
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)
HGVS:
  • NC_000011.10:g.108310188_108310190delinsCCTC
  • NG_009830.1:g.92357_92359delinsCCTC
  • NG_054724.1:g.164643_164645delinsGAGG
  • NM_000051.4:c.5791_5793delinsCCTCMANE SELECT
  • NM_001330368.2:c.641-1119_641-1117delinsGAGG
  • NM_001351110.2:c.*39-1119_*39-1117delinsGAGG
  • NM_001351834.2:c.5791_5793delinsCCTC
  • NP_000042.3:p.Ala1931Profs
  • NP_000042.3:p.Ala1931fs
  • NP_001338763.1:p.Ala1931fs
  • LRG_135t1:c.5791_5793delGCTinsCCTC
  • LRG_135:g.92357_92359delinsCCTC
  • LRG_135p1:p.Ala1931Profs
  • NC_000011.9:g.108180915_108180917delinsCCTC
  • NM_000051.3:c.5791_5793delGCTinsCCTC
  • NM_000051.3:c.5791_5794delGCTTinsCCTCT
Protein change:
A1931fs
Links:
dbSNP: rs1555110295
NCBI 1000 Genomes Browser:
rs1555110295
Molecular consequence:
  • NM_000051.4:c.5791_5793delinsCCTC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.5791_5793delinsCCTC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330368.2:c.641-1119_641-1117delinsGAGG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*39-1119_*39-1117delinsGAGG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000581467Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 25, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000581467.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.5791_5794delGCTTinsCCTCT pathogenic mutation, located in coding exon 38 of the ATM gene, results from the deletion of 4 nucleotides and insertion of 5 nucleotides causing a translational frameshift with a predicted alternate stop codon. 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024