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NM_014053.4(FLVCR1):c.642G>C (p.Gln214His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 23, 2020
Accession:
VCV001055046.1
Variation ID:
1055046
Description:
single nucleotide variant
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NM_014053.4(FLVCR1):c.642G>C (p.Gln214His)

Allele ID
1039766
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212859094 (GRCh38) GRCh38 UCSC
1: 213032436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213032436G>C
NC_000001.11:g.212859094G>C
NM_014053.4:c.642G>C MANE Select NP_054772.1:p.Gln214His missense
NG_028131.1:g.5840G>C
Protein change
Q214H
Other names
-
Canonical SPDI
NC_000001.11:212859093:G:C
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 Jan 23, 2020 RCV001363650.1
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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
(Jan 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001559771.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with histidine at codon 214 of the FLVCR1 protein (p.Gln214His). The glutamine residue is highly 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.

Record last updated Apr 18, 2021