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NM_000051.4(ATM):c.3292del (p.Gln1098fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 28, 2019
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:
RCV001019714.3

Allele description [Variation Report for NM_000051.4(ATM):c.3292del (p.Gln1098fs)]

NM_000051.4(ATM):c.3292del (p.Gln1098fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
HGVS:
  • NC_000011.10:g.108279498del
  • NG_009830.1:g.61667del
  • NM_000051.4:c.3292delMANE SELECT
  • NM_001351834.2:c.3292del
  • NP_000042.3:p.Gln1098fs
  • NP_001338763.1:p.Gln1098fs
  • LRG_135:g.61667del
  • NC_000011.9:g.108150224del
  • NC_000011.9:g.108150225del
  • NM_000051.3:c.3292delC
Protein change:
Q1098fs
Links:
dbSNP: rs1555090075
NCBI 1000 Genomes Browser:
rs1555090075
Molecular consequence:
  • NM_000051.4:c.3292del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.3292del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001181106Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Feb 28, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Piane M, Molinaro A, Soresina A, Costa S, Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L, Micheli R.

J Neurol Sci. 2016 Dec 15;371:48-53. doi: 10.1016/j.jns.2016.10.014. Epub 2016 Oct 13.

PubMed [citation]
PMID:
27871447

Details of each submission

From Ambry Genetics, SCV001181106.4

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

Description

The c.3292delC pathogenic mutation, located in coding exon 22 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 3292, causing a translational frameshift with a predicted alternate stop codon (p.Q1098Rfs*11). This mutation (designated as c.3291delC) was reported in a patient with ataxia telangiectasia who also had another ATM alteration in trans (Piane M et al. J. Neurol. Sci. 2016 Dec;371:48-53). 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025