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

Clinical significance:Likely pathogenic (Last evaluated: Feb 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000850205.2

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:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000897743Raymond Lab,University of Cambridgecriteria provided, single submitter
Likely pathogenic
(Feb 13, 2019)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not providednot providednot providedyesresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Raymond Lab,University of Cambridge, SCV000897743.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 2, 2022

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