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NM_005236.3(ERCC4):c.906T>C (p.Asp302=) AND Xeroderma pigmentosum

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 19, 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:
RCV002257771.1

Allele description [Variation Report for NM_005236.3(ERCC4):c.906T>C (p.Asp302=)]

NM_005236.3(ERCC4):c.906T>C (p.Asp302=)

Gene:
ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.12
Genomic location:
Preferred name:
NM_005236.3(ERCC4):c.906T>C (p.Asp302=)
HGVS:
  • NC_000016.10:g.13930823T>C
  • NG_011442.1:g.15667T>C
  • NM_005236.3:c.906T>CMANE SELECT
  • NP_005227.1:p.Asp302=
  • NP_005227.1:p.Asp302=
  • LRG_463t1:c.906T>C
  • LRG_463:g.15667T>C
  • LRG_463p1:p.Asp302=
  • NC_000016.9:g.14024680T>C
  • NM_005236.2:c.906T>C
Links:
dbSNP: rs148003381
NCBI 1000 Genomes Browser:
rs148003381
Molecular consequence:
  • NM_005236.3:c.906T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002537962Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Jan 19, 2022) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002537962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024