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NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 6, 2018
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:
RCV000672557.1

Allele description [Variation Report for NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)]

NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)

Gene:
ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del)
HGVS:
  • NC_000010.11:g.49470844CTT[1]
  • NG_009442.1:g.73253AAG[1]
  • NM_000124.4:c.3111AAG[1]MANE SELECT
  • NM_001346440.2:c.3111AAG[1]
  • NP_000115.1:p.Arg1039del
  • NP_001333369.1:p.Arg1039del
  • LRG_465t1:c.3114_3116del
  • LRG_465:g.73253AAG[1]
  • NC_000010.10:g.50678890CTT[1]
  • NC_000010.10:g.50678890_50678892del
  • NM_000124.2:c.3114_3116delAAG
Protein change:
R1039del
Links:
dbSNP: rs1342267719
NCBI 1000 Genomes Browser:
rs1342267719
Molecular consequence:
  • NM_000124.4:c.3111AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001346440.2:c.3111AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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 type 2
Synonyms:
Cockayne syndrome B; Cockayne syndrome type 2; Cockayne Syndrome, Type II
Identifiers:
MONDO: MONDO:0019570; MedGen: C0751038; Orphanet: 191; OMIM: 133540

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000797670Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Feb 6, 2018) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000797670.1

#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: Sep 29, 2024