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NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Jan 20, 2017
Most recent Submission:
Jan 20, 2017
Last evaluated:
Sep 1, 2001
Accession:
VCV000006165.1
Variation ID:
6165
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro)

Allele ID
21204
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661762 (GRCh38) GRCh38 UCSC
2: 219526485 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.464G>C MANE Select NP_001073335.1:p.Arg155Pro missense
NM_001257342.2:c.464G>C NP_001244271.1:p.Arg155Pro missense
NM_001257343.2:c.464G>C NP_001244272.1:p.Arg155Pro missense
... more HGVS
Protein change
R155P, R35P
Other names
-
Canonical SPDI
NC_000002.12:218661761:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA117994
UniProtKB: Q9Y276#VAR_018161
OMIM: 603647.0003
dbSNP: rs121908573
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 1, 2001 RCV000006540.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCS1L - - GRCh38
GRCh37
294 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 01, 2001)
no assertion criteria provided
Method: literature only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000026723.4
First in ClinVar: Apr 04, 2013
Last updated: Jan 20, 2017
Publications:
PubMed (1)
PubMed: 11528392
Comment on evidence:
In a boy of Turkish origin with complex III deficiency (MC3DN1; 124000) born to nonconsanguineous parents, de Lonlay et al. (2001) identified compound heterozygosity for … (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
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. de Lonlay P Nature genetics 2001 PMID: 11528392

Text-mined citations for rs121908573...

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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 Apr 25, 2022