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NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000046269.5
Variation ID:
46269
Description:
single nucleotide variant
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NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)

Allele ID
55434
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 90789837 (GRCh38) GRCh38 UCSC
5: 90085654 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.90789837T>C
NG_007083.2:g.265494T>C
NM_032119.4:c.14029T>C MANE Select NP_115495.3:p.Phe4677Leu missense
... more HGVS
Protein change
F4677L
Other names
p.F4677L:TTT>CTT
Canonical SPDI
NC_000005.10:90789836:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.03894 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.02398
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03419
1000 Genomes Project 0.03894
The Genome Aggregation Database (gnomAD), exomes 0.01003
The Genome Aggregation Database (gnomAD) 0.03458
Trans-Omics for Precision Medicine (TOPMed) 0.03863
Links
ClinGen: CA138028
dbSNP: rs62000408
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Mar 21, 2014 RCV000039525.8
Benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV000710430.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001157520.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADGRV1 - - GRCh38
GRCh37
2418 2449

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001724948.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840646.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jul 25, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000063214.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
This variant is not expected to have clinical significance because it is has bee n identified in 11% (317/2884) of African American chromosomes from a … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001319108.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Mar 21, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168725.10
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)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193238.1
Submitted: (Sep 11, 2014)
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
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 rs62000408...

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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 30, 2021