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NM_002016.2(FLG):c.8885del (p.Gln2962fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 29, 2019)
Last evaluated:
Apr 27, 2019
Accession:
VCV000638422.2
Variation ID:
638422
Description:
1bp deletion
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NM_002016.2(FLG):c.8885del (p.Gln2962fs)

Allele ID
626093
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q21.3
Genomic location
1: 152306001 (GRCh38) GRCh38 UCSC
1: 152278477 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1028:g.24203del
LRG_1028t1:c.8885del LRG_1028p1:p.Gln2962fs
NM_002016.1:c.8885del NP_002007.1:p.Gln2962fs frameshift
... more HGVS
Protein change
Q2962fs
Other names
-
Canonical SPDI
NC_000001.11:152306000:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1570897758
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 27, 2019 RCV000791075.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
331 380

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 27, 2019)
criteria provided, single submitter
Method: clinical testing
Ichthyosis vulgaris
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000930345.1
Submitted: (Apr 29, 2019)
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 rs1570897758...

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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 Sep 07, 2021