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

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 6, 2020)
Last evaluated:
Aug 30, 2019
Accession:
VCV000430102.7
Variation ID:
430102
Description:
3bp indel
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NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs)

Allele ID
421550
Variant type
Indel
Variant length
3 bp
Cytogenetic location
5q12.1
Genomic location
5: 60918367-60918369 (GRCh38) GRCh38 UCSC
5: 60214194-60214196 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_466:g.31710_31712delinsTG
NC_000005.10:g.60918367_60918369delinsCA
NC_000005.9:g.60214194_60214196delinsCA
... more HGVS
Protein change
R41fs, R99fs
Other names
-
Canonical SPDI
NC_000005.10:60918366:TCT:CA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645369343
dbSNP: rs1131691783
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 30, 2019 RCV000493563.3
Pathogenic 2 criteria provided, single submitter - RCV000984170.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC8 - - GRCh38
GRCh37
237 308
ERCC8-AS1 - - - GRCh38 - 31

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 19, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000582828.3
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The c.295_297delAGAinsTG variant in the ERCC8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome type A
Allele origin: inherited
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles
Accession: SCV000998511.1
Submitted: (Sep 13, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 30, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000936383.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Arg99Serfs*26) in the ERCC8 gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Dec 15, 2017)
no assertion criteria provided
Method: clinical testing
Cockayne syndrome type A
Allele origin: unknown
Counsyl
Accession: SCV001132183.1
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. Rump P BMC medical genomics 2016 PMID: 26846091

Text-mined citations for rs1131691783...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021