Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000295323.6
Variation ID:
295323
Description:
single nucleotide variant
Help

NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=)

Allele ID
278808
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212887966 (GRCh38) GRCh38 UCSC
1: 213061308 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213061308T>C
NC_000001.11:g.212887966T>C
NG_028131.1:g.34712T>C
NM_014053.4:c.1272T>C MANE Select NP_054772.1:p.Tyr424= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:212887965:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01198 (C)

Allele frequency
1000 Genomes Project 0.01198
The Genome Aggregation Database (gnomAD) 0.02593
Exome Aggregation Consortium (ExAC) 0.02714
Trans-Omics for Precision Medicine (TOPMed) 0.02750
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03052
The Genome Aggregation Database (gnomAD), exomes 0.02767
Links
ClinGen: CA1386100
dbSNP: rs17677416
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jan 13, 2018 RCV000327209.4
Benign 2 criteria provided, single submitter Oct 31, 2019 RCV001288602.2
Benign 1 criteria provided, single submitter Nov 26, 2020 RCV001516568.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000744815.1
Submitted: (Apr 09, 2018)
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: SCV000353972.3
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
(Oct 31, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475853.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001724864.1
Submitted: (Jan 07, 2021)
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: SCV001921149.1
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs17677416...

Help
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 24, 2021