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NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
11 (Most recent: Sep 30, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000129102.8
Variation ID:
129102
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)

Allele ID
134548
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212858606 (GRCh38) GRCh38 UCSC
1: 213031948 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9Y5Y0:p.Ala52Pro
NC_000001.10:g.213031948G>C
NC_000001.11:g.212858606G>C
... more HGVS
Protein change
A52P
Other names
-
Canonical SPDI
NC_000001.11:212858605:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.44449 (C)

Allele frequency
1000 Genomes Project 0.44449
The Genome Aggregation Database (gnomAD) 0.48262
The Genome Aggregation Database (gnomAD), exomes 0.48382
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.39456
Trans-Omics for Precision Medicine (TOPMed) 0.45157
Exome Aggregation Consortium (ExAC) 0.57409
Links
ClinGen: CA152893
UniProtKB: Q9Y5Y0#VAR_050297
dbSNP: rs11120047
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV000349578.6
Benign 3 criteria provided, multiple submitters, no conflicts Nov 26, 2020 RCV000992002.3
Benign 4 criteria provided, single submitter Feb 17, 2016 RCV000117087.7
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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
Benign
(Nov 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001944782.1
Submitted: (Sep 28, 2021)
Evidence details
Benign
(Sep 21, 2015)
criteria provided, single submitter
Method: clinical testing
Posterior column ataxia-retinitis pigmentosa syndrome
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744814.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(Feb 17, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000339817.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 21, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143948.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Posterior column ataxia-retinitis pigmentosa syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000353961.3
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
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001718205.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Posterior column ataxia-retinitis pigmentosa syndrome
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001933523.1
Submitted: (Sep 21, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000151229.2
Submitted: (Jun 27, 2014)
Evidence details
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)
Benign
(-)
no assertion criteria provided
Method: clinical testing
Posterior column ataxia-retinitis pigmentosa syndrome
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733982.1
Submitted: (Apr 04, 2018)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920186.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957391.1
Submitted: (Sep 30, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FLVCR1 - - - -

Text-mined citations for rs11120047...

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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 02, 2021