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NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 11, 2020
Accession:
VCV000866250.2
Variation ID:
866250
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)

Allele ID
855905
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212888594 (GRCh38) GRCh38 UCSC
1: 213061936 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213061936G>A
NC_000001.11:g.212888594G>A
NM_014053.4:c.1413G>A MANE Select NP_054772.1:p.Gln471= synonymous
NG_028131.1:g.35340G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:212888593:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Dec 29, 2018 RCV001074099.1
Uncertain significance 1 criteria provided, single submitter Mar 11, 2020 RCV001369244.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Dec 29, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239668.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Uncertain significance
(Mar 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001565677.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects codon 471 of the FLVCR1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (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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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Record last updated Apr 18, 2021