NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Apr 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674136.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)]

NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)
HGVS:
  • NC_000010.11:g.49461382del
  • NG_009442.1:g.82724del
  • NM_000124.4:c.3957delMANE SELECT
  • NM_001346440.2:c.3957del
  • NP_000115.1:p.Ile1320fs
  • NP_001333369.1:p.Ile1320fs
  • LRG_465t1:c.3957del
  • LRG_465:g.82724del
  • NC_000010.10:g.50669428del
  • NM_000124.2:c.3957delG
Protein change:
I1320fs
Links:
dbSNP: rs1554874073
NCBI 1000 Genomes Browser:
rs1554874073
Molecular consequence:
  • NM_000124.4:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346440.2:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
DE SANCTIS-CACCHIONE SYNDROME (ERCC6)
Synonyms:
Xerodermic idiocy
Identifiers:
MONDO: MONDO:0010217; MedGen: C0265201; OMIM: 278800
Name:
Cerebrooculofacioskeletal syndrome 1 (COFS1)
Synonyms:
Cerebro-oculo-facio-skeletal syndrome 1
Identifiers:
MONDO: MONDO:0008955; MedGen: C0220722; OMIM: 214150
Name:
Cockayne syndrome B (CSB)
Synonyms:
Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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)
OriginMethodCitations
SCV000799419Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 18, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

Sin Y, Tanaka K, Saijo M.

J Biol Chem. 2016 Jan 15;291(3):1387-97. doi: 10.1074/jbc.M115.683235. Epub 2015 Nov 30.

PubMed [citation]
PMID:
26620705
PMCID:
PMC4714222

Details of each submission

From Counsyl, SCV000799419.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center