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NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) AND Xeroderma pigmentosum, group G

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Mar 25, 2024
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:
RCV001844340.4

Allele description [Variation Report for NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)]

NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)

Genes:
BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
LOC126861834:BRD4-independent group 4 enhancer GRCh37_chr13:103518038-103519237 [Gene]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q33.1
Genomic location:
Preferred name:
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr)
HGVS:
  • NC_000013.11:g.102866704G>T
  • NG_007146.1:g.25881G>T
  • NG_086332.1:g.1117G>T
  • NM_000123.4:c.2392G>TMANE SELECT
  • NM_001204425.2:c.3754G>T
  • NP_000114.2:p.Asp798Tyr
  • NP_000114.3:p.Asp798Tyr
  • NP_001191354.2:p.Asp1252Tyr
  • LRG_464t1:c.2392G>T
  • LRG_464:g.25881G>T
  • LRG_464p1:p.Asp798Tyr
  • NC_000013.10:g.103519054G>T
  • NM_000123.3:c.2392G>T
Protein change:
D1252Y
Links:
dbSNP: rs755253596
NCBI 1000 Genomes Browser:
rs755253596
Molecular consequence:
  • NM_000123.4:c.2392G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204425.2:c.3754G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Xeroderma pigmentosum, group G (XPG)
Synonyms:
XP, GROUP G; Xeroderma pigmentosum VII; Xeroderma pigmentosum complementation group G; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010216; MedGen: C0268141; OMIM: 278780

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001870463Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
no assertion criteria provided
Likely pathogenic
(Apr 29, 2021)
germlineresearch

SCV004806040Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 25, 2024)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001870463.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806040.1

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

Last Updated: Sep 29, 2024