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NM_014053.4(FLVCR1):c.799A>G (p.Thr267Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 31, 2018)
Last evaluated:
Oct 25, 2017
Accession:
VCV000585882.1
Variation ID:
585882
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.799A>G (p.Thr267Ala)

Allele ID
576474
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212863785 (GRCh38) GRCh38 UCSC
1: 213037127 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213037127A>G
NC_000001.11:g.212863785A>G
NM_014053.4:c.799A>G MANE Select NP_054772.1:p.Thr267Ala missense
NG_028131.1:g.10531A>G
Protein change
T267A
Other names
-
Canonical SPDI
NC_000001.11:212863784:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1558107949
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 Oct 25, 2017 RCV000711702.1
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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
(Oct 25, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842089.1
Submitted: (Aug 31, 2018)
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 rs1558107949...

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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 Feb 05, 2021