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NM_000506.5(F2):c.954T>G (p.Ser318Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 13, 2021)
Last evaluated:
Apr 28, 2021
Accession:
VCV001098518.1
Variation ID:
1098518
Description:
single nucleotide variant
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NM_000506.5(F2):c.954T>G (p.Ser318Arg)

Allele ID
1087175
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 46726577 (GRCh38) GRCh38 UCSC
11: 46748127 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.46726577T>G
NC_000011.9:g.46748127T>G
NM_000506.5:c.954T>G MANE Select NP_000497.1:p.Ser318Arg missense
... more HGVS
Protein change
S318R
Other names
-
Canonical SPDI
NC_000011.10:46726576:T:G
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
Uncertain significance 1 criteria provided, single submitter Apr 28, 2021 RCV001420452.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F2 - - GRCh38
GRCh37
108 126

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 28, 2021)
criteria provided, single submitter
Method: research
Prothrombin deficiency, congenital
Allele origin: germline
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center
Accession: SCV001622488.1
Submitted: (May 13, 2021)
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.

Record last updated May 20, 2021