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NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 26, 2018
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:
RCV000477984.11

Allele description [Variation Report for NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)]

NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)

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_000051.4(ATM):c.7156G>C (p.Ala2386Pro)
HGVS:
  • NC_000011.10:g.108329087G>C
  • NG_009830.1:g.111256G>C
  • NG_054724.1:g.145746C>G
  • NM_000051.4:c.7156G>CMANE SELECT
  • NM_001330368.2:c.641-20016C>G
  • NM_001351110.2:c.*38+6133C>G
  • NM_001351834.2:c.7156G>C
  • NP_000042.3:p.Ala2386Pro
  • NP_000042.3:p.Ala2386Pro
  • NP_001338763.1:p.Ala2386Pro
  • LRG_135t1:c.7156G>C
  • LRG_135:g.111256G>C
  • LRG_135p1:p.Ala2386Pro
  • NC_000011.9:g.108199814G>C
  • NM_000051.3:c.7156G>C
Protein change:
A2386P
Links:
dbSNP: rs876659392
NCBI 1000 Genomes Browser:
rs876659392
Molecular consequence:
  • NM_001330368.2:c.641-20016C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+6133C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7156G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7156G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569975GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 26, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569975.5

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

Description

This variant is denoted ATM c.7156G>C at the cDNA level, p.Ala2386Pro (A2386P) at the protein level, and results in the change of an Alanine to a Proline (GCA>CCA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. ATM Ala2386Pro was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the FAT domain (Stracker 2013). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether ATM Ala2386Pro is a pathogenic or benign variant. 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: Apr 20, 2024