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NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) AND PROS1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 26, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003983851.2

Allele description [Variation Report for NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)]

NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)

Gene:
PROS1:protein S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q11.1
Genomic location:
Preferred name:
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
HGVS:
  • NC_000003.12:g.93927284T>G
  • NG_009813.1:g.51807A>C
  • NM_000313.4:c.200A>CMANE SELECT
  • NM_001314077.2:c.296A>C
  • NP_000304.2:p.Glu67Ala
  • NP_001301006.1:p.Glu99Ala
  • LRG_572t1:c.200A>C
  • LRG_572:g.51807A>C
  • NC_000003.11:g.93646128T>G
  • NM_000313.3:c.200A>C
Protein change:
E67A
Links:
dbSNP: rs766423432
NCBI 1000 Genomes Browser:
rs766423432
Molecular consequence:
  • NM_000313.4:c.200A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001314077.2:c.296A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PROS1-related disorder
Synonyms:
PROS1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004796214PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jan 26, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004796214.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PROS1 c.200A>C variant is predicted to result in the amino acid substitution p.Glu67Ala. This variant is alternatively referred to as p.Glu26Ala using legacy nomenclature. This variant was reported in the heterozygous state in multiple individuals with protein S deficiency and segregated with the disorder in several families (Gandrille et al. 1995. PubMed ID: 7803790; Li et al. 2019. PubMed ID: 30669159; Alhenc-Gelas et al. 2010. PubMed ID: 20880255; Duebgen et al. 2012. PubMed ID: 22261441). In vitro experimental studies suggest this variant impacts protein function (Castanman et al. 2007. PubMed ID: 17157360; Biguzzi et al. 2005. PubMed ID: 15712227). This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD. This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024