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NM_000400.4(ERCC2):c.827_828del (p.Thr276fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 2023
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:
RCV003697668.2

Allele description [Variation Report for NM_000400.4(ERCC2):c.827_828del (p.Thr276fs)]

NM_000400.4(ERCC2):c.827_828del (p.Thr276fs)

Gene:
ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000400.4(ERCC2):c.827_828del (p.Thr276fs)
HGVS:
  • NC_000019.10:g.45364108_45364109del
  • NG_007067.2:g.11480_11481del
  • NM_000400.4:c.827_828delMANE SELECT
  • NM_001130867.2:c.755_756del
  • NP_000391.1:p.Thr276Argfs
  • NP_000391.1:p.Thr276fs
  • NP_001124339.1:p.Thr252fs
  • LRG_461t1:c.826_827del
  • LRG_461:g.11480_11481del
  • LRG_461p1:p.Thr276Argfs
  • NC_000019.9:g.45867365_45867366del
  • NC_000019.9:g.45867366_45867367del
  • NM_000400.3:c.826_827delAC
Protein change:
T252fs
Molecular consequence:
  • NM_000400.4:c.827_828del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130867.2:c.755_756del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004467250Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 17, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.

Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63.

PubMed [citation]
PMID:
9238033
PMCID:
PMC23065

Trichothiodystrophy, a transcription syndrome.

Bergmann E, Egly JM.

Trends Genet. 2001 May;17(5):279-86. Review.

PubMed [citation]
PMID:
11335038
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004467250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ERCC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr276Argfs*101) in the ERCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC2 are known to be pathogenic (PMID: 9238033, 11335038, 19085937, 19934020).

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

Last Updated: Sep 29, 2024