NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) AND Cockayne syndrome type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 5, 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:: RCV000673244.1

Allele description [Variation Report for NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)]

NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)

Gene:

ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q12.1

Genomic location:

Preferred name:

NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs)

HGVS:

NC_000005.10:g.60874617_60874623del
NG_009289.1:g.75459_75465del
NM_000082.4:c.1186_*1delMANE SELECT
NM_001007233.3:c.1012_*1del
NM_001290285.2:c.727_*1del
NP_000073.1:p.Gly396fs
NP_001007234.1:p.Gly338fs
NP_001277214.1:p.Gly243fs
LRG_466:g.75459_75465del
NC_000005.9:g.60170444_60170450del
NM_000082.3:c.1186_*1del7

Protein change:

G243fs

Links:

dbSNP: rs1554071495

NCBI 1000 Genomes Browser:

rs1554071495

Molecular consequence:

NM_000082.4:c.1186_*1del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001007233.3:c.1012_*1del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001290285.2:c.727_*1del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cockayne syndrome type 1
Synonyms:: Cockayne syndrome type A; Cockayne syndrome classical; Cockayne syndrome classic form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019569; MedGen: C0751039; Orphanet: 191; OMIM: 216400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798425	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Mar 5, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798425

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Mar 5, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000798425.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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