NM_000051.3(ATM):c.1564_1565delGA (p.Glu522Ilefs) AND Hereditary cancer-predisposing syndrome

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

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000115144.9

Allele description

NM_000051.3(ATM):c.1564_1565delGA (p.Glu522Ilefs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.3(ATM):c.1564_1565delGA (p.Glu522Ilefs)
HGVS:
  • NC_000011.10:g.108251029_108251030delGA
  • NG_009830.1:g.33198_33199delGA
  • NM_000051.3:c.1564_1565delGA
  • NP_000042.3:p.Glu522Ilefs
  • LRG_135t1:c.1564_1565delGA
  • LRG_135:g.33198_33199delGA
  • LRG_135p1:p.Glu522Ilefs
  • NC_000011.9:g.108121756_108121757delGA
  • NM_000051.3:c.1561_1562delAG
  • c.1563delAG
  • c.1564_1565delGA
  • p.E522IFS*43
  • p.E522IfsX43
  • p.Glu522IlefsTer43
  • p.Glu522IlefsX43
Links:
dbSNP: rs587779817
NCBI 1000 Genomes Browser:
rs587779817
Molecular consequence:
  • NM_000051.3:c.1564_1565delGA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185620Ambry Geneticscriteria provided, single submitter
Pathogenic
(Oct 11, 2017)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link,

SCV000681982Colorcriteria provided, single submitter
Pathogenic
(Mar 31, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Huang DS, Tao HQ, He XJ, Long M, Yu S, Xia YJ, Wei Z, Xiong Z, Jones S, He Y, Yan H, Wang X.

Oncotarget. 2015 Dec 1;6(38):40953-8. doi: 10.18632/oncotarget.5944.

PubMed [citation]
PMID:
26506520
PMCID:
PMC4747381

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D.

Hum Mol Genet. 1999 Jan;8(1):69-79.

PubMed [citation]
PMID:
9887333
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000185620.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (9)

Description

Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000681982.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 25, 2018

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