NM_005654.6(NR2F1):c.289C>G (p.His97Asp) AND Bosch-Boonstra-Schaaf optic atrophy syndrome

Clinical significance:Likely pathogenic (Last evaluated: Mar 13, 2018)

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:
RCV000677407.1

Allele description [Variation Report for NM_005654.6(NR2F1):c.289C>G (p.His97Asp)]

NM_005654.6(NR2F1):c.289C>G (p.His97Asp)

Gene:
NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q15
Genomic location:
Preferred name:
NM_005654.6(NR2F1):c.289C>G (p.His97Asp)
HGVS:
  • NC_000005.10:g.93585312C>G
  • NG_034119.1:g.6976C>G
  • NM_005654.6:c.289C>GMANE SELECT
  • NP_005645.1:p.His97Asp
  • NC_000005.9:g.92921018C>G
  • NM_005654.5:c.289C>G
Protein change:
H97D
Links:
dbSNP: rs1287146448
NCBI 1000 Genomes Browser:
rs1287146448
Molecular consequence:
  • NM_005654.6:c.289C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
Identifiers:
MONDO: MONDO:0014320; MedGen: C3810363; Orphanet: 401777; OMIM: 615722

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000803711Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalsno assertion criteria provided
Likely pathogenic
(Mar 13, 2018)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

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 Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals, SCV000803711.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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