NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) AND Cockayne syndrome type 1

Germline classification:: Pathogenic (2 submissions)
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:: RCV000984170.3

Allele description [Variation Report for NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)]

NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)

Genes:

ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
ERCC8-AS1:ERCC8 antisense RNA 1 [Gene - HGNC]

Variant type:

Indel

Cytogenetic location:

5q12.1

Genomic location:

Preferred name:

NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)

HGVS:

NC_000005.10:g.60918367_60918369delinsCA
NG_009289.1:g.31710_31712delinsTG
NM_000082.4:c.295_297delinsTGMANE SELECT
NM_001007233.3:c.121_123delinsTG
NM_001007234.3:c.295_297delinsTG
NM_001290285.2:c.-83_-81delinsTG
NP_000073.1:p.Arg99fs
NP_001007234.1:p.Arg41fs
NP_001007235.1:p.Arg99fs
LRG_466:g.31710_31712delinsTG
NC_000005.9:g.60214194_60214196delinsCA
NM_000082.3:c.295_297delAGAinsTG

Protein change:

R41fs

Links:

dbSNP: rs1131691783

NCBI 1000 Genomes Browser:

rs1131691783

Molecular consequence:

NM_001290285.2:c.-83_-81delinsTG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000082.4:c.295_297delinsTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001007233.3:c.121_123delinsTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001007234.3:c.295_297delinsTG - 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
SCV000998511	Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	clinical testing	PubMed (2) [See all records that cite these PMIDs] 26846091, 25741868
SCV001132183	Counsyl	no assertion criteria provided	Likely pathogenic (Dec 15, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998511

Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001132183

Counsyl

no assertion criteria provided

Likely pathogenic
(Dec 15, 2017)

unknown

clinical testing

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

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
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B.

BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.

PubMed [citation]

PMID:: 26846091
PMCID:: PMC4743197

Details of each submission

From Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles, SCV000998511.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Counsyl, SCV001132183.1

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

#	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: Sep 29, 2024

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