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NM_032119.4(ADGRV1):c.17756-5T>C

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000389683.4
Variation ID:
389683
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.17756-5T>C

Allele ID
368757
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90863752 (GRCh38) GRCh38 UCSC
5: 90159569 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.90159569T>C
NC_000005.10:g.90863752T>C
NM_032119.4:c.17756-5T>C MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:90863751:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD) 0.00057
The Genome Aggregation Database (gnomAD), exomes 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00033
Trans-Omics for Precision Medicine (TOPMed) 0.00064
1000 Genomes Project 0.00040
Links
ClinGen: CA3342445
dbSNP: rs148654550
Varsome
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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 Oct 19, 2016 RCV000422299.1
Benign 1 criteria provided, single submitter Nov 17, 2020 RCV000978388.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADGRV1 - - GRCh38
GRCh37
2158 2189

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000532310.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001126317.3
Submitted: (Jan 07, 2021)
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 rs148654550...

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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 Jun 14, 2021