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NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) AND Cerebrooculofacioskeletal syndrome 4

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000490532.1

Allele description [Variation Report for NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)]

NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)

Gene:
ERCC1:ERCC excision repair 1, endonuclease non-catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)
HGVS:
  • NC_000019.10:g.45421315C>A
  • NG_015839.2:g.62514G>T
  • NM_001166049.2:c.184G>T
  • NM_001369408.1:c.184G>T
  • NM_001369409.1:c.184G>T
  • NM_001369410.1:c.184G>T
  • NM_001369411.1:c.184G>T
  • NM_001369412.1:c.184G>T
  • NM_001369413.1:c.184G>T
  • NM_001369414.1:c.184G>T
  • NM_001369415.1:c.184G>T
  • NM_001369416.1:c.184G>T
  • NM_001369417.1:c.184G>T
  • NM_001369418.1:c.184G>T
  • NM_001369419.1:c.184G>T
  • NM_001983.4:c.184G>TMANE SELECT
  • NM_202001.3:c.184G>T
  • NP_001159521.1:p.Glu62Ter
  • NP_001356337.1:p.Glu62Ter
  • NP_001356338.1:p.Glu62Ter
  • NP_001356339.1:p.Glu62Ter
  • NP_001356340.1:p.Glu62Ter
  • NP_001356341.1:p.Glu62Ter
  • NP_001356342.1:p.Glu62Ter
  • NP_001356343.1:p.Glu62Ter
  • NP_001356344.1:p.Glu62Ter
  • NP_001356345.1:p.Glu62Ter
  • NP_001356346.1:p.Glu62Ter
  • NP_001356347.1:p.Glu62Ter
  • NP_001356348.1:p.Glu62Ter
  • NP_001974.1:p.Glu62Ter
  • NP_973730.1:p.Glu62Ter
  • LRG_305t1:c.184G>T
  • LRG_305:g.62514G>T
  • LRG_305p1:p.Glu62Ter
  • NC_000019.9:g.45924573C>A
  • NM_001166049.1:c.184G>T
Protein change:
E62*
Links:
dbSNP: rs150584960
NCBI 1000 Genomes Browser:
rs150584960
Molecular consequence:
  • NM_001166049.2:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369408.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369409.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369410.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369411.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369412.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369413.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369414.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369415.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369416.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369417.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369418.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369419.1:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001983.4:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_202001.3:c.184G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cerebrooculofacioskeletal syndrome 4 (COFS4)
Identifiers:
MONDO: MONDO:0012554; MedGen: C1853100; OMIM: 610758

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267303Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 18, 2016) 		germlinereference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, et al.

Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25.

PubMed [citation]
PMID:
23623389
PMCID:
PMC3644632

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267303.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022