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NM_000124.4(ERCC6):c.214del (p.Leu72fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Sep 18, 2017
Accession:
VCV000553889.1
Variation ID:
553889
Description:
1bp deletion
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NM_000124.4(ERCC6):c.214del (p.Leu72fs)

Allele ID
545710
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
10q11.23
Genomic location
10: 49532751 (GRCh38) GRCh38 UCSC
10: 50740797 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_465t1:c.214del
LRG_465:g.11351del
NC_000010.10:g.50740799del
... more HGVS
Protein change
L72fs
Other names
-
Canonical SPDI
NC_000010.11:49532750:GGG:GG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554794640
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 Sep 18, 2017 RCV000669424.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ERCC6 - - GRCh38
GRCh37
525 816
ERCC6-PGBD3 - - - GRCh38 - 240

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 18, 2017)
criteria provided, single submitter
Method: clinical testing
Cockayne syndrome B
Cerebrooculofacioskeletal syndrome 1
DE SANCTIS-CACCHIONE SYNDROME
Allele origin: unknown
Counsyl
Accession: SCV000794174.1
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 rs1554794640...

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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 08, 2021