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NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) AND Xeroderma pigmentosum

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2022
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:
RCV002255296.3

Allele description [Variation Report for NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)]

NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)

Gene:
ERCC3:ERCC excision repair 3, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q14.3
Genomic location:
Preferred name:
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
HGVS:
  • NC_000002.12:g.127280553dup
  • NG_007454.1:g.18624dup
  • NM_000122.2:c.1421dupMANE SELECT
  • NM_001303416.2:c.1229dup
  • NM_001303418.2:c.1229dup
  • NP_000113.1:p.Asp474fs
  • NP_001290345.1:p.Asp410fs
  • NP_001290347.1:p.Asp410fs
  • LRG_462t1:c.1421dup
  • LRG_462:g.18624dup
  • NC_000002.11:g.128038128_128038129insT
  • NC_000002.11:g.128038129dup
  • NM_000122.1:c.1421dup
  • NM_000122.1:c.1421dupA
Protein change:
D410fs
Links:
OMIM: 133510.0006; dbSNP: rs587778281
NCBI 1000 Genomes Browser:
rs587778281
Molecular consequence:
  • NM_000122.2:c.1421dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303416.2:c.1229dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001303418.2:c.1229dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Xeroderma pigmentosum (XP)
Synonyms:
Xeroderma pigmentosa
Identifiers:
MONDO: MONDO:0019600; MedGen: C0043346

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002532598Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Pathogenic
(Feb 23, 2022) 		germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH.

Hum Mutat. 2006 Nov;27(11):1092-103.

PubMed [citation]
PMID:
16947863

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, et al.

Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.

PubMed [citation]
PMID:
29625052
PMCID:
PMC5949147
See all PubMed Citations (3)

Details of each submission

From Sema4, Sema4, SCV002532598.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024