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NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) AND COFS syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 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:
RCV000403636.6

Allele description [Variation Report for NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)]

NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)

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.3689G>C (p.Arg1230Pro)
HGVS:
  • NC_000010.11:g.49470271C>G
  • NG_009442.1:g.73831G>C
  • NM_000124.4:c.3689G>CMANE SELECT
  • NM_001346440.2:c.3689G>C
  • NP_000115.1:p.Arg1230Pro
  • NP_001333369.1:p.Arg1230Pro
  • LRG_465t1:c.3689G>C
  • LRG_465:g.73831G>C
  • NC_000010.10:g.50678317C>G
  • NM_000124.2:c.3689G>C
  • NM_000124.3:c.3689G>C
  • Q03468:p.Arg1230Pro
Protein change:
R1230P
Links:
UniProtKB: Q03468#VAR_016305; dbSNP: rs4253211
NCBI 1000 Genomes Browser:
rs4253211
Molecular consequence:
  • NM_000124.4:c.3689G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346440.2:c.3689G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COFS syndrome
Synonyms:
Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal Syndrome; PENA-SHOKEIR SYNDROME, TYPE II
Identifiers:
MONDO: MONDO:0008926; MedGen: C5399761; OMIM: PS214150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000362764Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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, SCV000362764.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024