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NM_000082.4(ERCC8):c.1042-1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Apr 18, 2017
Accession:
VCV000551549.1
Variation ID:
551549
Description:
single nucleotide variant
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NM_000082.4(ERCC8):c.1042-1G>C

Allele ID
543775
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q12.1
Genomic location
5: 60887521 (GRCh38) GRCh38 UCSC
5: 60183348 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_466:g.62558G>C
LRG_466t1:c.1042-1G>C
NM_000082.3:c.1042-1G>C splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:60887520:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs897535441
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 18, 2017 RCV000666637.1
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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
239 310

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 18, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome type A
Allele origin: unknown
Counsyl
Accession: SCV000790960.1
Submitted: (Jul 10, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs897535441...

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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