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NM_001314077.1(PROS1):c.1858A>G (p.Thr620Ala)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Jun 30, 2017
Accession:
VCV000161344.1
Variation ID:
161344
Description:
single nucleotide variant
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NM_001314077.1(PROS1):c.1858A>G (p.Thr620Ala)

Allele ID
171086
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q11.1
Genomic location
3: 93877074 (GRCh38) GRCh38 UCSC
3: 93595918 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_572:g.102017A>G
NC_000003.11:g.93595918T>C
NC_000003.12:g.93877074T>C
... more HGVS
Protein change
T588A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00025
The Genome Aggregation Database (gnomAD), exomes 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00041
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
Exome Aggregation Consortium (ExAC) 0.00063
Links
dbSNP: rs142846443
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 30, 2017 RCV000197760.2
Uncertain significance 1 no assertion criteria provided Jun 1, 2014 RCV000148750.1
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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
Benign
(Jun 30, 2017)
criteria provided, single submitter
Method: clinical testing
Thrombophilia due to protein S deficiency, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000254524.2
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(Jun 01, 2014)
no assertion criteria provided
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: SCV000190487.1
Submitted: (Aug 28, 2014)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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