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NM_001314077.1(PROS1):c.1843A>C (p.Asn615His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 22, 2015)
Last evaluated:
Jun 1, 2014
Accession:
VCV000161349.1
Variation ID:
161349
Description:
single nucleotide variant
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NM_001314077.1(PROS1):c.1843A>C (p.Asn615His)

Allele ID
171087
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q11.1
Genomic location
3: 93877089 (GRCh38) GRCh38 UCSC
3: 93595933 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.93595933T>G
NC_000003.12:g.93877089T>G
NM_000313.3:c.1747A>C NP_000304.2:p.Asn583His
... more HGVS
Protein change
N583H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD), exomes 0.00011
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00006
Links
dbSNP: rs139479630
UniProtKB: P07225#VAR_046875
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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 Jun 1, 2014 RCV000148755.1
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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
Uncertain significance
(Jun 01, 2014)
criteria provided, single submitter
Method: research
Protein S deficiency
(Autosomal dominant inheritance)
Allele origin: germline
CSER_CC_NCGL; University of Washington Medical Center
Study: ESP 6500 variant annotation
Accession: SCV000190492.2
Submitted: (Nov 22, 2015)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Evidence details
Publications
PubMed (1)
Comment:
Low GERP score may suggest that this variant may belong in a lower pathogenicity class

Citations for this variant

Title Author Journal Year Link
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Amendola LM Genome research 2015 PMID: 25637381

Record last updated Sep 10, 2019