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NM_001314077.1(PROS1):c.300C>G (p.Ala100=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Apr 29, 2016
Accession:
VCV000416408.1
Variation ID:
416408
Description:
single nucleotide variant
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NM_001314077.1(PROS1):c.300C>G (p.Ala100=)

Allele ID
393805
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q11.1
Genomic location
3: 93927280 (GRCh38) GRCh38 UCSC
3: 93646124 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.93646124G>C
NC_000003.12:g.93927280G>C
NM_000313.3:c.204C>G NP_000304.2:p.Ala68= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs1060504812
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 29, 2016 RCV000470207.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PROS1 - - GRCh38
GRCh37
128 148

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 29, 2016)
criteria provided, single submitter
Method: clinical testing
Thrombophilia due to protein S deficiency, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000561928.2
Submitted: (Mar 14, 2017)
Evidence details

Citations for this variant

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 Oct 11, 2019