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NM_004628.5(XPC):c.420_423del (p.Glu141fs) AND Xeroderma pigmentosum, group C

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Sep 24, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000665434.2

Allele description [Variation Report for NM_004628.5(XPC):c.420_423del (p.Glu141fs)]

NM_004628.5(XPC):c.420_423del (p.Glu141fs)

Gene:
XPC:XPC complex subunit, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_004628.5(XPC):c.420_423del (p.Glu141fs)
HGVS:
  • NC_000003.12:g.14168372_14168375del
  • NG_011763.1:g.15300_15303del
  • NM_001354726.2:c.-43-1120_-43-1117del
  • NM_001354727.2:c.420_423del
  • NM_001354729.2:c.402_405del
  • NM_001354730.2:c.420_423del
  • NM_004628.5:c.420_423delMANE SELECT
  • NP_001341656.1:p.Glu141fs
  • NP_001341658.1:p.Glu135fs
  • NP_001341659.1:p.Glu141fs
  • NP_004619.3:p.Glu141fs
  • NP_004619.3:p.Glu141fs
  • LRG_472t1:c.420_423del
  • LRG_472:g.15300_15303del
  • LRG_472p1:p.Glu141fs
  • NC_000003.11:g.14209870_14209873del
  • NC_000003.11:g.14209872_14209875del
  • NM_004628.4:c.420_423del
  • NM_004628.4:c.420_423delTGAG
  • NR_148950.2:n.453_456del
Protein change:
E135fs
Links:
dbSNP: rs1330667099
NCBI 1000 Genomes Browser:
rs1330667099
Molecular consequence:
  • NM_001354727.2:c.420_423del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354729.2:c.402_405del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354730.2:c.420_423del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004628.5:c.420_423del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354726.2:c.-43-1120_-43-1117del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148950.2:n.453_456del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Xeroderma pigmentosum, group C (XPC)
Synonyms:
XERODERMA PIGMENTOSUM III; XP, GROUP C; Xeroderma pigmentosum, complementation group C
Identifiers:
MONDO: MONDO:0010211; MedGen: C2752147; Orphanet: 910; OMIM: 278720

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000789559Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Pathogenic
(Feb 8, 2017)
unknownclinical testing

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

Citation Link,

SCV004206970Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Sep 24, 2023)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

A unique chromosomal in-frame deletion identified among seven XP-C patients.

Schubert S, Rieper P, Ohlenbusch A, Seebode C, Lehmann J, Gratchev A, Emmert S.

Photodermatol Photoimmunol Photomed. 2016 Sep;32(5-6):276-283. doi: 10.1111/phpp.12251. Epub 2016 Jul 27.

PubMed [citation]
PMID:
27387384

Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH.

Carcinogenesis. 2006 Jan;27(1):84-94. Epub 2005 Aug 4.

PubMed [citation]
PMID:
16081512
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000789559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004206970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024