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NM_006567.5(FARS2):c.676C>T (p.His226Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 4, 2020
Accession:
VCV000473314.4
Variation ID:
473314
Description:
single nucleotide variant
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NM_006567.5(FARS2):c.676C>T (p.His226Tyr)

Allele ID
456258
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 5404605 (GRCh38) GRCh38 UCSC
6: 5404838 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.5404838C>T
NC_000006.12:g.5404605C>T
NM_006567.5:c.676C>T MANE Select NP_006558.1:p.His226Tyr missense
... more HGVS
Protein change
H226Y
Other names
-
Canonical SPDI
NC_000006.12:5404604:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00042
Trans-Omics for Precision Medicine (TOPMed) 0.00025
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00041
1000 Genomes Project 0.00020
Links
ClinGen: CA3623711
dbSNP: rs201991648
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 4, 2020 RCV000549295.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FARS2 - - GRCh38
GRCh37
286 354

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
Combined oxidative phosphorylation deficiency 14
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000845687.1
Submitted: (Jun 13, 2018)
Evidence details
Likely benign
(Oct 04, 2020)
criteria provided, single submitter
Method: clinical testing
Combined oxidative phosphorylation deficiency 14
Allele origin: germline
Invitae
Accession: SCV000652851.4
Submitted: (Jan 07, 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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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 rs201991648...

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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 May 23, 2021