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NM_021625.4(TRPV4):c.1584+1G>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 6, 2017
Accession:
VCV000536877.1
Variation ID:
536877
Description:
single nucleotide variant
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NM_021625.4(TRPV4):c.1584+1G>A

Allele ID
526901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 109793929 (GRCh38) GRCh38 UCSC
12: 110231734 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.110231734C>T
NC_000012.12:g.109793929C>T
NM_001177433.1:c.1263+1G>A splice donor
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs775922797
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 6, 2017 RCV000645569.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TRPV4 - - GRCh38
GRCh37
385 397

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 06, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 2C
Allele origin: germline
Invitae
Accession: SCV000767319.1
Submitted: (Apr 02, 2018)
Evidence details

Citations for this variant

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

Record last updated Sep 10, 2019