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NM_000400.4(ERCC2):c.848A>T (p.Asp283Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 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:
RCV002447657.2

Allele description [Variation Report for NM_000400.4(ERCC2):c.848A>T (p.Asp283Val)]

NM_000400.4(ERCC2):c.848A>T (p.Asp283Val)

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.848A>T (p.Asp283Val)
HGVS:
  • NC_000019.10:g.45364087T>A
  • NG_007067.2:g.11501A>T
  • NM_000400.4:c.848A>TMANE SELECT
  • NM_001130867.2:c.776A>T
  • NP_000391.1:p.Asp283Val
  • NP_000391.1:p.Asp283Val
  • NP_001124339.1:p.Asp259Val
  • LRG_461t1:c.848A>T
  • LRG_461:g.11501A>T
  • LRG_461p1:p.Asp283Val
  • NC_000019.9:g.45867345T>A
  • NM_000400.3:c.848A>T
Protein change:
D259V
Molecular consequence:
  • NM_000400.4:c.848A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130867.2:c.776A>T - 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
SCV002677625Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 17, 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, SCV002677625.2

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

Description

The c.848A>T (p.D283V) alteration is located in exon 10 (coding exon 10) of the ERCC2 gene. This alteration results from a A to T substitution at nucleotide position 848, causing the aspartic acid (D) at amino acid position 283 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024