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NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jun 8, 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:
RCV001194781.2

Allele description [Variation Report for NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)]

NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)

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.2169C>A (p.Cys723Ter)
HGVS:
  • NC_000016.10:g.13947765C>A
  • NG_011442.1:g.32609C>A
  • NM_005236.3:c.2169C>AMANE SELECT
  • NP_005227.1:p.Cys723Ter
  • NP_005227.1:p.Cys723Ter
  • LRG_463t1:c.2169C>A
  • LRG_463:g.32609C>A
  • LRG_463p1:p.Cys723Ter
  • NC_000016.9:g.14041622C>A
  • NM_005236.2:c.2169C>A
Protein change:
C723*
Links:
dbSNP: rs2020959
NCBI 1000 Genomes Browser:
rs2020959
Molecular consequence:
  • NM_005236.3:c.2169C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001364567Leiden Open Variation Database
no assertion criteria provided
Uncertain significance
(Mar 28, 2017) 		germlinecuration

SCV005079693GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Jun 8, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, curation

Details of each submission

From Leiden Open Variation Database, SCV001364567.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Gerard C.P. Schaafsma.

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

From GeneDx, SCV005079693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Identified in the heterozygous state in patients with sarcoma, breast cancer, and colon cancer in the published literature, however, familial segregation data was not included (PMID: 28878254, 31350202); Published functional studies suggest a damaging effect (PMID: 24412486); Nonsense variant predicted to result in protein truncation, as the last 194 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD or GeneDx.; This variant is associated with the following publications: (PMID: 24412486, 28878254, 35929646, 31350202)

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

Last Updated: Sep 29, 2024