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

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 8, 2019
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:
RCV000018055.33

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 group B
Synonyms:
XP, GROUP B; XPB/CS; XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME
Identifiers:
MONDO: MONDO:0012531; MedGen: C0268136; OMIM: 610651

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038334OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV001369260Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Oct 8, 2019)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000038334.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (610651), Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (133510.0001) and a 1-bp insertion (1421insA) in exon 9, resulting in a frameshift and premature termination of the protein at codon 475.

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

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001369260.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.

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

Last Updated: Jul 13, 2025