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NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys) AND Xeroderma pigmentosum, group D

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV001129002.4

Allele description [Variation Report for NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)]

NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)

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.1891C>T (p.Arg631Cys)
HGVS:
  • NC_000019.10:g.45352757G>A
  • NG_007067.2:g.22831C>T
  • NM_000400.4:c.1891C>TMANE SELECT
  • NP_000391.1:p.Arg631Cys
  • LRG_461t1:c.1891C>T
  • LRG_461:g.22831C>T
  • NC_000019.9:g.45856015G>A
  • NC_000019.9:g.45856015G>A
  • NM_000400.3:c.1891C>T
Protein change:
R631C
Links:
dbSNP: rs144511865
NCBI 1000 Genomes Browser:
rs144511865
Molecular consequence:
  • NM_000400.4:c.1891C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Xeroderma pigmentosum, group D (XPD)
Synonyms:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XERODERMA PIGMENTOSUM IV; XP, GROUP D; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010212; MedGen: C0268138; OMIM: 278730

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001288498Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of Damaging nsSNVs in HumanERCC2 Gene.

Fang S, Zhang Y, Xu M, Xue C, He L, Cai L, Xing X.

Chem Biol Drug Des. 2016 Sep;88(3):441-50. doi: 10.1111/cbdd.12772. Epub 2016 May 24.

PubMed [citation]
PMID:
27085493

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, et al.

PLoS Genet. 2016 Aug;12(8):e1006248. doi: 10.1371/journal.pgen.1006248.

PubMed [citation]
PMID:
27504877
PMCID:
PMC4978395

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001288498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 29, 2024