NM_000124.4(ERCC6):c.214del (p.Leu72fs) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Sep 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669424.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.214del (p.Leu72fs)]

NM_000124.4(ERCC6):c.214del (p.Leu72fs)

Genes:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
ERCC6-PGBD3:ERCC6-PGBD3 readthrough [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.214del (p.Leu72fs)
HGVS:
  • NC_000010.11:g.49532753del
  • NG_009442.1:g.11351del
  • NM_000124.4:c.214delMANE SELECT
  • NM_001277058.1:c.214del
  • NM_001277059.1:c.214del
  • NM_001346440.1:c.214del
  • NP_000115.1:p.Leu72fs
  • NP_001263987.1:p.Leu72fs
  • NP_001263988.1:p.Leu72fs
  • NP_001333369.1:p.Leu72fs
  • LRG_465t1:c.214del
  • LRG_465:g.11351del
  • NC_000010.10:g.50740799del
  • NM_000124.2:c.214delC
Protein change:
L72fs
Links:
dbSNP: rs1554794640
NCBI 1000 Genomes Browser:
rs1554794640
Molecular consequence:
  • NM_000124.4:c.214del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277058.1:c.214del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277059.1:c.214del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001346440.1:c.214del - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794174Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 18, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000794174.1

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

Last Updated: Oct 7, 2021

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