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NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 9, 2020
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:
RCV000573949.4

Allele description [Variation Report for NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)]

NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
HGVS:
  • NC_000011.10:g.108307901AG[1]
  • NG_009830.1:g.90070AG[1]
  • NG_054724.1:g.166929CT[1]
  • NM_000051.4:c.5681_5682delMANE SELECT
  • NM_001351834.2:c.5681_5682del
  • NP_000042.3:p.Glu1894fs
  • NP_001338763.1:p.Glu1894fs
  • LRG_135t1:c.5681_5682del
  • LRG_135:g.90070AG[1]
  • NC_000011.9:g.108178628AG[1]
  • NC_000011.9:g.108178628_108178629del
  • NM_000051.3:c.5681_5682del
  • NM_000051.3:c.5681_5682delAG
Protein change:
E1894fs
Links:
dbSNP: rs1060501580
NCBI 1000 Genomes Browser:
rs1060501580
Molecular consequence:
  • NM_000051.4:c.5681_5682del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.5681_5682del - 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
SCV000668025Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 9, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Longitudinal analysis of the neurological features of ataxia-telangiectasia.

Jackson TJ, Chow G, Suri M, Byrd P, Taylor MR, Whitehouse WP.

Dev Med Child Neurol. 2016 Jul;58(7):690-7. doi: 10.1111/dmcn.13052. Epub 2016 Feb 19.

PubMed [citation]
PMID:
26896183

Details of each submission

From Ambry Genetics, SCV000668025.5

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

Description

The c.5681_5682delAG pathogenic mutation, located in coding exon 37 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 5681 to 5682, causing a translational frameshift with a predicted alternate stop codon (p.E1894Afs*9). This alteration was identified in a patient with ataxia-telangiectasia in conjunction with another ATM mutation, c.748C>T (p.R250*) (Jackson TJ et al. Dev Med Child Neurol. 2016 07;58:690-7). 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