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NM_000400.4(ERCC2):c.971G>A (p.Arg324His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 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:
RCV002376714.2

Allele description [Variation Report for NM_000400.4(ERCC2):c.971G>A (p.Arg324His)]

NM_000400.4(ERCC2):c.971G>A (p.Arg324His)

Gene:
ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000400.4(ERCC2):c.971G>A (p.Arg324His)
HGVS:
  • NC_000019.10:g.45363890C>T
  • NG_007067.2:g.11698G>A
  • NM_000400.4:c.971G>AMANE SELECT
  • NM_001130867.2:c.899G>A
  • NP_000391.1:p.Arg324His
  • NP_000391.1:p.Arg324His
  • NP_001124339.1:p.Arg300His
  • LRG_461t1:c.971G>A
  • LRG_461:g.11698G>A
  • LRG_461p1:p.Arg324His
  • NC_000019.9:g.45867148C>T
  • NM_000400.3:c.971G>A
Protein change:
R300H
Molecular consequence:
  • NM_000400.4:c.971G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130867.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002692226Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 13, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002692226.2

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

Description

The p.R324H variant (also known as c.971G>A), located in coding exon 11 of the ERCC2 gene, results from a G to A substitution at nucleotide position 971. The arginine at codon 324 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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: Sep 29, 2024