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NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 7, 2022
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:
RCV000567665.5

Allele description [Variation Report for NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)]

NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
HGVS:
  • NC_000011.10:g.108268577_108268580dup
  • NG_009830.1:g.50746_50749dup
  • NM_000051.4:c.2806_2809dupMANE SELECT
  • NM_001351834.2:c.2806_2809dup
  • NP_000042.3:p.Glu937fs
  • NP_000042.3:p.Glu937fs
  • NP_001338763.1:p.Glu937fs
  • LRG_135t1:c.2806_2809dup
  • LRG_135:g.50746_50749dup
  • LRG_135p1:p.Glu937fs
  • NC_000011.9:g.108139302_108139303insGCTA
  • NC_000011.9:g.108139304_108139307dup
  • NM_000051.3:c.2806_2809dup
  • NM_000051.3:c.2806_2809dupCTAG
Protein change:
E937fs
Links:
dbSNP: rs757237504
NCBI 1000 Genomes Browser:
rs757237504
Molecular consequence:
  • NM_000051.4:c.2806_2809dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.2806_2809dup - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000665316Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 7, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000665316.5

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

Description

The c.2806_2809dupCTAG pathogenic mutation, located in coding exon 17 of the ATM gene, results from a duplication of CTAG at nucleotide position 2806, causing a translational frameshift with a predicted alternate stop codon (p.E937Afs*33). This mutation has been detected in an individual with ataxia-telangiectasia in conjunction with another pathogenic ATM mutation (Teraoka et al. Am. J. Hum. Genet. 1999 Jun;64(6):1617-31). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Sep 29, 2024