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

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 25, 2018)
Last evaluated:
Mar 13, 2018
Accession:
VCV000559635.1
Variation ID:
559635
Description:
single nucleotide variant
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NM_005654.6(NR2F1):c.289C>G (p.His97Asp)

Allele ID
550358
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q15
Genomic location
5: 93585312 (GRCh38) GRCh38 UCSC
5: 92921018 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.93585312C>G
NC_000005.9:g.92921018C>G
NM_005654.6:c.289C>G MANE Select NP_005645.1:p.His97Asp missense
NG_034119.1:g.6976C>G
Protein change
H97D
Other names
-
Canonical SPDI
NC_000005.10:93585311:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1287146448
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Mar 13, 2018 RCV000677407.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NR2F1 No evidence available No evidence available GRCh38
GRCh37
127 157

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 13, 2018)
no assertion criteria provided
Method: clinical testing
Bosch-Boonstra-Schaaf optic atrophy syndrome
Allele origin: de novo
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
Accession: SCV000803711.1
Submitted: (Jun 25, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1287146448...

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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 Apr 17, 2020