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NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
May 10, 2021
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 31, 2021
Accession:
VCV001071417.5
Variation ID:
1071417
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)

Allele ID
1059182
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218662910 (GRCh38) GRCh38 UCSC
2: 219527633 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.917G>A MANE Select NP_001073335.1:p.Arg306His missense
NM_001257342.2:c.917G>A NP_001244271.1:p.Arg306His missense
NM_001257343.2:c.917G>A NP_001244272.1:p.Arg306His missense
... more HGVS
Protein change
R139H, R186H, R306H
Other names
-
Canonical SPDI
NC_000002.12:218662909:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 31, 2021 RCV001383887.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCS1L - - GRCh38
GRCh37
294 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Aug 31, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001583207.2
First in ClinVar: May 10, 2021
Last updated: May 16, 2022
Likely pathogenic
(Jul 28, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002022037.1
First in ClinVar: Nov 29, 2021
Last updated: Nov 29, 2021

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.

Record last updated Aug 24, 2022