NM_000124.4(ERCC6):c.544-2A>G AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Sep 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669337.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.544-2A>G]

NM_000124.4(ERCC6):c.544-2A>G

Genes:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
ERCC6-PGBD3:ERCC6-PGBD3 readthrough [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.544-2A>G
HGVS:
  • NC_000010.11:g.49528527T>C
  • NG_009442.1:g.15575A>G
  • NG_033155.1:g.755A>G
  • NM_000124.4:c.544-2A>GMANE SELECT
  • NM_001277058.2:c.544-2A>G
  • NM_001277059.2:c.544-2A>G
  • NM_001346440.2:c.544-2A>G
  • LRG_465t1:c.544-2A>G
  • LRG_465:g.15575A>G
  • NC_000010.10:g.50736573T>C
  • NM_000124.2:c.544-2A>G
Links:
dbSNP: rs1554794073
NCBI 1000 Genomes Browser:
rs1554794073
Molecular consequence:
  • NM_000124.4:c.544-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001277058.2:c.544-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001277059.2:c.544-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001346440.2:c.544-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000794081Counsylcriteria provided, single submitter
Likely pathogenic
(Sep 8, 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, SCV000794081.1

#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 24, 2021

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