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NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1); Uncertain significance(2); Likely benign(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4
First in ClinVar:
Aug 5, 2018
Most recent Submission:
Aug 23, 2022
Last evaluated:
Nov 13, 2021
Accession:
VCV000554974.17
Variation ID:
554974
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)

Allele ID
541853
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661204 (GRCh38) GRCh38 UCSC
2: 219525927 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.217C>T MANE Select NP_001073335.1:p.Arg73Cys missense
NM_001257342.2:c.217C>T NP_001244271.1:p.Arg73Cys missense
NM_001257343.2:c.217C>T NP_001244272.1:p.Arg73Cys missense
... more HGVS
Protein change
R73C
Other names
-
Canonical SPDI
NC_000002.12:218661203:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00016
Links
dbSNP: rs140812286
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 Nov 9, 2017 RCV000670706.1
Uncertain significance 1 criteria provided, single submitter May 22, 2017 RCV000778591.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 13, 2021 RCV001171821.12
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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
Uncertain significance
(Nov 09, 2017)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000795597.1
First in ClinVar: Aug 05, 2018
Last updated: Aug 05, 2018
Publications:
PubMed (1)
PubMed: 17403714
Uncertain significance
(May 22, 2017)
criteria provided, single submitter
Method: clinical testing
Mitochondrial complex III deficiency nuclear type 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000914898.1
First in ClinVar: May 27, 2019
Last updated: May 27, 2019
Publications:
PubMed (2)
PubMed: 2231036817403714
Comment:
The BCS1L c.217C>T (p.Arg73Cys) variant has been reported in two studies in the same individual with mitochondrial respiratory chain complex III deficiency in a compound … (more)
Likely benign
(Nov 13, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001689654.2
First in ClinVar: Jun 08, 2021
Last updated: May 16, 2022
Pathogenic
(Mar 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001334690.10
First in ClinVar: Jun 08, 2020
Last updated: Aug 23, 2022
Number of individuals with the variant: 1

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
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. Invernizzi F Mitochondrion 2012 PMID: 22310368
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Fernandez-Vizarra E Human molecular genetics 2007 PMID: 17403714

Text-mined citations for rs140812286...

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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 Aug 24, 2022