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NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (4 submissions)
Last evaluated:
Jun 6, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000115252.11

Allele description

NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg)
Other names:
p.L2492R:CTT>CGT
HGVS:
  • NC_000011.10:g.108330381T>G
  • NG_009830.1:g.112550T>G
  • NG_054724.1:g.144452A>C
  • NM_000051.3:c.7475T>G
  • NM_001330368.2:c.641-21310A>C
  • NM_001351110.2:c.38+4839A>C
  • NM_001351834.2:c.7475T>G
  • NP_000042.3:p.Leu2492Arg
  • NP_001338763.1:p.Leu2492Arg
  • LRG_135t1:c.7475T>G
  • LRG_135:g.112550T>G
  • LRG_135p1:p.Leu2492Arg
  • NC_000011.9:g.108201108T>G
  • Q13315:p.Leu2492Arg
  • p.L2492R
Protein change:
L2492R
Links:
UniProtKB: Q13315#VAR_041579; dbSNP: rs56399857
NCBI 1000 Genomes Browser:
rs56399857
Molecular consequence:
  • NM_001330368.2:c.641-21310A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.38+4839A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.3:c.7475T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7475T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172858Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))
Uncertain significance
(Jun 6, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000537541Color
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 9, 2018)
germlineclinical testing

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

SCV000679694Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jul 12, 2017)
germlineclinical testing

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

SCV000821871GeneKor MSA
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 1, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Patterns of somatic mutation in human cancer genomes.

Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, et al.

Nature. 2007 Mar 8;446(7132):153-8.

PubMed [citation]
PMID:
17344846
PMCID:
PMC2712719

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]
PMID:
26689913
PMCID:
PMC4703835
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000172858.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

Insufficient evidence

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

From Color, SCV000537541.3

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

From Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C., SCV000679694.1

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

From GeneKor MSA, SCV000821871.1

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

Last Updated: Jun 7, 2020