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NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly) AND Mitochondrial complex III deficiency nuclear type 1

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001837431.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)]

NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001079866.2(BCS1L):c.712A>G (p.Ser238Gly)
HGVS:
  • NC_000002.12:g.218662253A>G
  • NG_008018.1:g.7598A>G
  • NG_033099.1:g.2288T>C
  • NM_001079866.2:c.712A>GMANE SELECT
  • NM_001257342.2:c.712A>G
  • NM_001257343.2:c.712A>G
  • NM_001257344.2:c.712A>G
  • NM_001318836.2:c.352A>G
  • NM_001320717.2:c.712A>G
  • NM_001371443.1:c.712A>G
  • NM_001371444.1:c.712A>G
  • NM_001371446.1:c.712A>G
  • NM_001371447.1:c.712A>G
  • NM_001371448.1:c.712A>G
  • NM_001371449.1:c.712A>G
  • NM_001371450.1:c.712A>G
  • NM_001371451.1:c.352A>G
  • NM_001371452.1:c.211A>G
  • NM_001371453.1:c.211A>G
  • NM_001371454.1:c.211A>G
  • NM_001371455.1:c.211A>G
  • NM_001371456.1:c.211A>G
  • NM_001374085.1:c.712A>G
  • NM_001374086.1:c.211A>G
  • NM_004328.5:c.712A>G
  • NP_001073335.1:p.Ser238Gly
  • NP_001244271.1:p.Ser238Gly
  • NP_001244272.1:p.Ser238Gly
  • NP_001244273.1:p.Ser238Gly
  • NP_001305765.1:p.Ser118Gly
  • NP_001307646.1:p.Ser238Gly
  • NP_001358372.1:p.Ser238Gly
  • NP_001358373.1:p.Ser238Gly
  • NP_001358375.1:p.Ser238Gly
  • NP_001358376.1:p.Ser238Gly
  • NP_001358377.1:p.Ser238Gly
  • NP_001358378.1:p.Ser238Gly
  • NP_001358379.1:p.Ser238Gly
  • NP_001358380.1:p.Ser118Gly
  • NP_001358381.1:p.Ser71Gly
  • NP_001358382.1:p.Ser71Gly
  • NP_001358383.1:p.Ser71Gly
  • NP_001358384.1:p.Ser71Gly
  • NP_001358385.1:p.Ser71Gly
  • NP_001361014.1:p.Ser238Gly
  • NP_001361015.1:p.Ser71Gly
  • NP_004319.1:p.Ser238Gly
  • LRG_539:g.7598A>G
  • NC_000002.11:g.219526976A>G
  • NR_163955.1:n.1724A>G
Protein change:
S118G
Molecular consequence:
  • NM_001079866.2:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.352A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.352A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.211A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1724A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Mitochondrial complex III deficiency nuclear type 1
Synonyms:
Complex 3 mitochondrial respiratory chain deficiency
Identifiers:
MONDO: MONDO:0007415; MedGen: C3541471; Orphanet: 254902; OMIM: 124000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002098032King Saud Bin Abdulaziz University for Health Sciencesno assertion criteria providedPathogenic
(Oct 2, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Saudigermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE.

N Engl J Med. 2007 Feb 22;356(8):809-19.

PubMed [citation]
PMID:
17314340

Clinical and biochemical features associated with BCS1L mutation.

Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N.

J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19.

PubMed [citation]
PMID:
22991165
See all PubMed Citations (6)

Details of each submission

From King Saud Bin Abdulaziz University for Health Sciences, SCV002098032.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Saudi1not providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022

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