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NM_000051.4(ATM):c.5370T>A (p.Asp1790Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2021
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:
RCV000570105.3

Allele description [Variation Report for NM_000051.4(ATM):c.5370T>A (p.Asp1790Glu)]

NM_000051.4(ATM):c.5370T>A (p.Asp1790Glu)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5370T>A (p.Asp1790Glu)
HGVS:
  • NC_000011.10:g.108302903T>A
  • NG_009830.1:g.85072T>A
  • NM_000051.4:c.5370T>AMANE SELECT
  • NM_001351834.2:c.5370T>A
  • NP_000042.3:p.Asp1790Glu
  • NP_000042.3:p.Asp1790Glu
  • NP_001338763.1:p.Asp1790Glu
  • LRG_135t1:c.5370T>A
  • LRG_135:g.85072T>A
  • LRG_135p1:p.Asp1790Glu
  • NC_000011.9:g.108173630T>A
  • NM_000051.3:c.5370T>A
Protein change:
D1790E
Links:
dbSNP: rs1555106395
NCBI 1000 Genomes Browser:
rs1555106395
Molecular consequence:
  • NM_000051.4:c.5370T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.5370T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000667901Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 20, 2021) 		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

Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Choi MC, Hwang S, Kim S, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim TH, Kang H, An HJ.

Cancer Res Treat. 2020 Apr;52(2):634-644. doi: 10.4143/crt.2019.207. Epub 2020 Jan 6.

PubMed [citation]
PMID:
32019284
PMCID:
PMC7176973

Details of each submission

From Ambry Genetics, SCV000667901.5

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

Description

The p.D1790E variant (also known as c.5370T>A), located in coding exon 35 of the ATM gene, results from a T to A substitution at nucleotide position 5370. The aspartic acid at codon 1790 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024