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NM_014053.4(FLVCR1):c.1619A>G (p.Gln540Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV000447349.3
Variation ID:
447349
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.1619A>G (p.Gln540Arg)

Allele ID
440447
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212895241 (GRCh38) GRCh38 UCSC
1: 213068583 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213068583A>G
NC_000001.11:g.212895241A>G
NM_014053.4:c.1619A>G MANE Select NP_054772.1:p.Gln540Arg missense
NG_028131.1:g.41987A>G
Protein change
Q540R
Other names
-
Canonical SPDI
NC_000001.11:212895240:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00006
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Links
ClinGen: CA1386223
dbSNP: rs144226457
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 23, 2017 RCV000516409.1
Uncertain significance 1 criteria provided, single submitter Oct 19, 2020 RCV001227799.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLVCR1 - - GRCh38
GRCh37
300 324

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613338.1
Submitted: (Aug 17, 2017)
Evidence details
Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001400174.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with arginine at codon 540 of the FLVCR1 protein (p.Gln540Arg). The glutamine residue is weakly conserved and there is a … (more)

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 rs144226457...

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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 Mar 07, 2021