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NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) AND multiple conditions

Clinical significance:Pathogenic

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:
RCV001003577.1

Allele description [Variation Report for NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)]

NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)

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.518G>A (p.Gly173Asp)
HGVS:
  • NC_000002.12:g.218661816G>A
  • NG_008018.1:g.7161G>A
  • NG_033099.1:g.2725C>T
  • NM_001079866.2:c.518G>AMANE SELECT
  • NM_001257342.2:c.518G>A
  • NM_001257343.2:c.518G>A
  • NM_001257344.2:c.518G>A
  • NM_001318836.2:c.158G>A
  • NM_001320717.2:c.518G>A
  • NM_001371443.1:c.518G>A
  • NM_001371444.1:c.518G>A
  • NM_001371446.1:c.518G>A
  • NM_001371447.1:c.518G>A
  • NM_001371448.1:c.518G>A
  • NM_001371449.1:c.518G>A
  • NM_001371450.1:c.518G>A
  • NM_001371451.1:c.158G>A
  • NM_001371452.1:c.17G>A
  • NM_001371453.1:c.17G>A
  • NM_001371454.1:c.17G>A
  • NM_001371455.1:c.17G>A
  • NM_001371456.1:c.17G>A
  • NM_001374085.1:c.518G>A
  • NM_001374086.1:c.17G>A
  • NM_004328.5:c.518G>A
  • NP_001073335.1:p.Gly173Asp
  • NP_001244271.1:p.Gly173Asp
  • NP_001244272.1:p.Gly173Asp
  • NP_001244273.1:p.Gly173Asp
  • NP_001305765.1:p.Gly53Asp
  • NP_001307646.1:p.Gly173Asp
  • NP_001358372.1:p.Gly173Asp
  • NP_001358373.1:p.Gly173Asp
  • NP_001358375.1:p.Gly173Asp
  • NP_001358376.1:p.Gly173Asp
  • NP_001358377.1:p.Gly173Asp
  • NP_001358378.1:p.Gly173Asp
  • NP_001358379.1:p.Gly173Asp
  • NP_001358380.1:p.Gly53Asp
  • NP_001358381.1:p.Gly6Asp
  • NP_001358382.1:p.Gly6Asp
  • NP_001358383.1:p.Gly6Asp
  • NP_001358384.1:p.Gly6Asp
  • NP_001358385.1:p.Gly6Asp
  • NP_001361014.1:p.Gly173Asp
  • NP_001361015.1:p.Gly6Asp
  • NP_004319.1:p.Gly173Asp
  • LRG_539:g.7161G>A
  • NC_000002.11:g.219526539G>A
  • NM_001079866.1:c.518G>A
  • NR_163955.1:n.1530G>A
Protein change:
G173D
Links:
dbSNP: rs375876694
NCBI 1000 Genomes Browser:
rs375876694
Molecular consequence:
  • NM_001079866.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257342.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257343.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257344.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318836.2:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320717.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371443.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371444.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371446.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371447.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371448.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371449.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371450.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371451.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371452.1:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371453.1:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371454.1:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371455.1:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371456.1:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374085.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374086.1:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004328.5:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_163955.1:n.1530G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Sparse hair
Identifiers:
MedGen: C5551005; Human Phenotype Ontology: HP:0008070
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864
Name:
Movement disorder
Synonyms:
Abnormality of movement
Identifiers:
MONDO: MONDO:0005395; MedGen: C0026650; Human Phenotype Ontology: HP:0100022

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001161954NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedPathogenicunknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 2, 2022

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