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NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 10, 2019)
Last evaluated:
Nov 18, 2001
Accession:
VCV000599484.1
Variation ID:
599484
Description:
single nucleotide variant
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NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)

Allele ID
590886
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 30669598 (GRCh38) GRCh38 UCSC
16: 30680919 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.30669598C>G
NC_000016.9:g.30680919C>G
NM_001105079.3:c.2896C>G MANE Select NP_001098549.2:p.Pro966Ala missense
Protein change
P966A
Other names
-
Canonical SPDI
NC_000016.10:30669597:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1259852690
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 Nov 18, 2001 RCV000736121.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBRS - - GRCh38
GRCh37
4 24

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 18, 2001)
no assertion criteria provided
Method: case-control
Short stature
Allele origin: maternal
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV000864418.1
Submitted: (Jan 10, 2019)
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 rs1259852690...

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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 Aug 11, 2021