NM_000312.4(PROC):c.1015G>A (p.Val339Met) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 16, 2019
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:: RCV001266003.2

Allele description [Variation Report for NM_000312.4(PROC):c.1015G>A (p.Val339Met)]

NM_000312.4(PROC):c.1015G>A (p.Val339Met)

Gene:

PROC:protein C, inactivator of coagulation factors Va and VIIIa [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.3

Genomic location:

Preferred name:

NM_000312.4(PROC):c.1015G>A (p.Val339Met)

Other names:

V297M

HGVS:

NC_000002.12:g.127428575G>A
NG_016323.1:g.15156G>A
NM_000312.4:c.1015G>AMANE SELECT
NM_001375602.1:c.1198G>A
NM_001375603.1:c.1180G>A
NM_001375604.1:c.1078G>A
NM_001375605.1:c.1117G>A
NM_001375606.1:c.1183G>A
NM_001375607.1:c.1201G>A
NM_001375608.1:c.958G>A
NM_001375609.1:c.991G>A
NM_001375610.1:c.1009G>A
NM_001375611.1:c.1015G>A
NM_001375613.1:c.1015G>A
NP_000303.1:p.Val339Met
NP_000303.1:p.Val339Met
NP_001362531.1:p.Val400Met
NP_001362532.1:p.Val394Met
NP_001362533.1:p.Val360Met
NP_001362534.1:p.Val373Met
NP_001362535.1:p.Val395Met
NP_001362536.1:p.Val401Met
NP_001362537.1:p.Val320Met
NP_001362538.1:p.Val331Met
NP_001362539.1:p.Val337Met
NP_001362540.1:p.Val339Met
NP_001362542.1:p.Val339Met
LRG_599t1:c.1015G>A
LRG_599:g.15156G>A
LRG_599p1:p.Val339Met
NC_000002.11:g.128186151G>A
NM_000312.3:c.1015G>A

Protein change:

V320M; VAL297MET

Links:

OMIM: 612283.0022; dbSNP: rs121918158

NCBI 1000 Genomes Browser:

rs121918158

Molecular consequence:

NM_000312.4:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375602.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375603.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375604.1:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375605.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375606.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375607.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375608.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375609.1:c.991G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375610.1:c.1009G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375611.1:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375613.1:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444175	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Oct 16, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18954896, 21621249, 25712501, 27081530, 28111891 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444175

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Oct 16, 2019)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, Kokame K, Kimura R, Honda S, Kawasaki T, Suehisa E, Tsuji H, Madoiwa S, Sakata Y, Kojima T, Murata M, Ikeda Y.

Thromb Res. 2009 May;124(1):14-8. doi: 10.1016/j.thromres.2008.08.020. Epub 2008 Oct 26.

PubMed [citation]

PMID:: 18954896

Genetic defects in Portuguese families with inherited protein C deficiency.

David D, Ferreira C, Ventura C, Freire I, Moreira I, Gago T.

Thromb Res. 2011 Sep;128(3):299-302. doi: 10.1016/j.thromres.2011.05.001. Epub 2011 May 31. No abstract available.

PubMed [citation]

PMID:: 21621249

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV001444175.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (5)

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

Last Updated: Sep 29, 2024

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