U.S. flag

An official website of the United States government

NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) AND Cerebrooculofacioskeletal syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

Allele description [Variation Report for NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)]

NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)

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.3284C>G (p.Pro1095Arg)
  • NC_000010.11:g.49470676G>C
  • NG_009442.1:g.73426C>G
  • NM_000124.4:c.3284C>GMANE SELECT
  • NM_001346440.2:c.3284C>G
  • NP_000115.1:p.Pro1095Arg
  • NP_001333369.1:p.Pro1095Arg
  • LRG_465t1:c.3284C>G
  • LRG_465:g.73426C>G
  • NC_000010.10:g.50678722G>C
  • NM_000124.2:c.3284C>G
  • NM_000124.3:c.3284C>G
  • Q03468:p.Pro1095Arg
Protein change:
P1095R; PRO1095ARG
UniProtKB: Q03468#VAR_001222; OMIM: 609413.0008; dbSNP: rs4253208
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000124.4:c.3284C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346440.2:c.3284C>G - missense variant - [Sequence Ontology: SO:0001583]


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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000362800Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Likely benign
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000362800.3

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


This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Jul 15, 2024