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NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 31, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000722241.5
Variation ID:
722241
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)

Allele ID
735268
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90810373 (GRCh38) GRCh38 UCSC
5: 90106190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1095:g.286030T>C
LRG_1095t1:c.15113T>C LRG_1095p1:p.Ile5038Thr
NC_000005.10:g.90810373T>C
... more HGVS
Protein change
I5038T
Other names
-
Canonical SPDI
NC_000005.10:90810372:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00038
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00016
Exome Aggregation Consortium (ExAC) 0.00032
1000 Genomes Project 0.00060
Links
dbSNP: rs192561791
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Oct 24, 2020 RCV000895852.5
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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
2305 2336

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 17, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001142925.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001039918.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 02, 2021)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001813565.1
Submitted: (Aug 31, 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 rs192561791...

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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