NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) AND Cerebrooculofacioskeletal syndrome 1

Clinical significance:Pathogenic (Last evaluated: Jun 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)]

NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
  • NC_000010.11:g.49461473G>A
  • NG_009442.1:g.82629C>T
  • NM_000124.4:c.3862C>TMANE SELECT
  • NM_001346440.2:c.3862C>T
  • NP_000115.1:p.Arg1288Ter
  • NP_001333369.1:p.Arg1288Ter
  • LRG_465t1:c.3862C>T
  • LRG_465:g.82629C>T
  • NC_000010.10:g.50669519G>A
  • NM_000124.2:c.3862C>T
  • NM_000124.3:c.3862C>T
Protein change:
R1288*; ARG1288TER
OMIM: 609413.0015; dbSNP: rs185142838
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000124.4:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.2:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]


Cerebrooculofacioskeletal syndrome 1 (COFS1)
Cerebro-oculo-facio-skeletal syndrome 1
MONDO: MONDO:0008955; MedGen: C0220722; OMIM: 214150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000045575OMIMno assertion criteria providedPathogenic
(Dec 1, 2010)
germlineliterature only

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

SCV001522601Baylor Geneticscriteria provided, single submitter
(Jun 9, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only



ERCC6 founder mutation identified in Finnish patients with COFS syndrome.

Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NG, Shao H, Wu BL, Ignatius J.

Clin Genet. 2010 Dec;78(6):541-7. doi: 10.1111/j.1399-0004.2010.01424.x.

PubMed [citation]

Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.

Linna SL, Finni K, Similä S, Kouvalainen K, Laitinen J.

Pediatr Radiol. 1982;12(1):28-30.

PubMed [citation]
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000045575.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)


In 3 of 6 affected members of a large consanguineous Finnish family with cerebrooculofacioskeletal syndrome (COFS1; 214150), Jaakkola et al. (2010) identified a homozygous 3862C-T transition in the ERCC6 gene, resulting in an arg1288-to-ter (R1288X) substitution. Two of the patients had originally been reported by Linna et al. (1982); the R1288X mutation was found in paraffin-embedded tissue from 1 of these patients. Fibroblast studies showed that the mutation caused a severe reduction of the encoded protein to 20% of controls. Genealogic analysis revealed that common ancestors for all the patients lived in the 18th century in a small village in northern Finland, consistent with a founder effect.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001522601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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