NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 19, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000599381.1

Allele description [Variation Report for NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)]

NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)

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.1351C>T (p.Arg451Ter)

HGVS:

NC_000003.12:g.93884869G>A
NG_009813.1:g.94222C>T
NM_000313.4:c.1351C>TMANE SELECT
NM_001314077.2:c.1447C>T
NP_000304.2:p.Arg451Ter
NP_000304.2:p.Arg451Ter
NP_001301006.1:p.Arg483Ter
LRG_572t1:c.1351C>T
LRG_572:g.94222C>T
LRG_572p1:p.Arg451Ter
NC_000003.11:g.93603713G>A
NM_000313.3:c.1351C>T

Protein change:

R451*

Links:

dbSNP: rs5017717

NCBI 1000 Genomes Browser:

rs5017717

Molecular consequence:

NM_000313.4:c.1351C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001314077.2:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710003	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 19, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710003

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 19, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000710003.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The R451X variant in the PROS1 gene has been reported previously in multiple unrelated individuals with protein S deficiency (Mustafa et al., 1995; Klostermeier et al., 2015; Tang et al., 2013; Bruwer et al., 2016; Biguzzi et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R451X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R451X as a pathogenic variant,

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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