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NM_000526.5(KRT14):c.92del (p.Ile31fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Nov 16, 2020)
Last evaluated:
Sep 1, 2000
Accession:
VCV000066385.8
Variation ID:
66385
Description:
1bp deletion
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NM_000526.5(KRT14):c.92del (p.Ile31fs)

Allele ID
77282
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 41586743 (GRCh38) GRCh38 UCSC
17: 39742995 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.39742995del
NC_000017.11:g.41586743del
NG_008624.1:g.5153del
... more HGVS
Protein change
I31fs
Other names
-
Canonical SPDI
NC_000017.11:41586742:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
OMIM: 148066.0014
dbSNP: rs60231560
ClinGen: CA216994
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 1, 2000 RCV000015729.27
Likely pathogenic 1 no assertion criteria provided - RCV001291416.1
not provided 1 no assertion provided - RCV000056760.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KRT14 - - GRCh38
GRCh37
136 145

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Sjogren-Larsson syndrome
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479917.1
Submitted: (Nov 16, 2020)
Evidence details
Pathogenic
(Sep 01, 2000)
no assertion criteria provided
Method: literature only
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
Allele origin: germline
OMIM
Accession: SCV000035994.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000087873.1
Submitted: (Jul 31, 2012)
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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Title Author Journal Year Link
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Shah K International journal of dermatology 2017 PMID: 29130490
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. Batta K The British journal of dermatology 2000 PMID: 10971341

Text-mined citations for rs60231560...

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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 09, 2021