NM_000051.4(ATM):c.1855A>C (p.Asn619His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000587634.3

Allele description [Variation Report for NM_000051.4(ATM):c.1855A>C (p.Asn619His)]

NM_000051.4(ATM):c.1855A>C (p.Asn619His)

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.1855A>C (p.Asn619His)
HGVS:
  • NC_000011.10:g.108252869A>C
  • NG_009830.1:g.35038A>C
  • NM_000051.3:c.1855A>C
  • NM_000051.4:c.1855A>CMANE SELECT
  • NM_001351834.2:c.1855A>C
  • NP_000042.3:p.Asn619His
  • NP_000042.3:p.Asn619His
  • NP_001338763.1:p.Asn619His
  • LRG_135t1:c.1855A>C
  • LRG_135:g.35038A>C
  • LRG_135p1:p.Asn619His
  • NC_000011.9:g.108123596A>C
  • p.N619H
Protein change:
N619H
Links:
dbSNP: rs140882609
NCBI 1000 Genomes Browser:
rs140882609
Molecular consequence:
  • NM_000051.3:c.1855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000051.4:c.1855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.1855A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000278811GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000278811.9

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

Description

This variant is denoted ATM c.1855A>C at the cDNA level, p.Asn619His (N619H) at the protein level, and results in the change of an Asparagine to a Histidine (AAC>CAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. ATM Asn619His was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Asparagine and Histidine differ in some properties, this is considered a semi-conservative amino acid substitution. ATM Asn619His is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available information, it is unclear whether ATM Asn619His is pathogenic or benign. We consider it to be a variant of uncertain significance.

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

Last Updated: Nov 27, 2021

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