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NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) AND ERCC6-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004732993.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)]

NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)
HGVS:
  • NC_000010.11:g.49474056G>A
  • NG_009442.1:g.70046C>T
  • NM_000124.4:c.2569C>TMANE SELECT
  • NM_001346440.2:c.2569C>T
  • NP_000115.1:p.Arg857Ter
  • NP_001333369.1:p.Arg857Ter
  • LRG_465t1:c.2569C>T
  • LRG_465:g.70046C>T
  • NC_000010.10:g.50682102G>A
  • NM_000124.2:c.2569C>T
  • NM_000124.3:c.2569C>T
Protein change:
R857*
Links:
dbSNP: rs751448793
NCBI 1000 Genomes Browser:
rs751448793
Molecular consequence:
  • NM_000124.4:c.2569C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346440.2:c.2569C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
ERCC6-related disorder
Synonyms:
ERCC6-related condition; ERCC6-related disorders
Identifiers:
MedGen: CN239385

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360656PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(May 16, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360656.1

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

Description

The ERCC6 c.2569C>T variant is predicted to result in premature protein termination (p.Arg857*). This variant was reported in the compound heterozygous state in two individuals with cerebro-oculo-facio-skeletal syndrome (Laugel et al. 2008. PubMed ID: 18628313; Martins et al. 2021. PubMed ID: 34271225). This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. Nonsense variants in ERCC6 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Mar 29, 2025