NM_000312.4(PROC):c.199G>A (p.Glu67Lys) AND Thrombophilia due to protein C deficiency, autosomal dominant

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 27, 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:: RCV000761310.1

Allele description [Variation Report for NM_000312.4(PROC):c.199G>A (p.Glu67Lys)]

NM_000312.4(PROC):c.199G>A (p.Glu67Lys)

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.199G>A (p.Glu67Lys)

HGVS:

NC_000002.12:g.127421411G>A
NG_016323.1:g.7992G>A
NM_000312.4:c.199G>AMANE SELECT
NM_001375602.1:c.382G>A
NM_001375603.1:c.262G>A
NM_001375604.1:c.262G>A
NM_001375605.1:c.199G>A
NM_001375606.1:c.262G>A
NM_001375607.1:c.283G>A
NM_001375608.1:c.199G>A
NM_001375609.1:c.175G>A
NM_001375610.1:c.193G>A
NM_001375611.1:c.199G>A
NM_001375613.1:c.199G>A
NP_000303.1:p.Glu67Lys
NP_000303.1:p.Glu67Lys
NP_001362531.1:p.Glu128Lys
NP_001362532.1:p.Glu88Lys
NP_001362533.1:p.Glu88Lys
NP_001362534.1:p.Glu67Lys
NP_001362535.1:p.Glu88Lys
NP_001362536.1:p.Glu95Lys
NP_001362537.1:p.Glu67Lys
NP_001362538.1:p.Glu59Lys
NP_001362539.1:p.Glu65Lys
NP_001362540.1:p.Glu67Lys
NP_001362542.1:p.Glu67Lys
LRG_599t1:c.199G>A
LRG_599:g.7992G>A
LRG_599p1:p.Glu67Lys
NC_000002.11:g.128178987G>A
NM_000312.3:c.199G>A

Protein change:

E128K

Links:

dbSNP: rs1448630830

NCBI 1000 Genomes Browser:

rs1448630830

Molecular consequence:

NM_000312.4:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375602.1:c.382G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375603.1:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375604.1:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375605.1:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375606.1:c.262G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375607.1:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375608.1:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375609.1:c.175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375610.1:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375611.1:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375613.1:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Thrombophilia due to protein C deficiency, autosomal dominant
Synonyms:: PROC DEFICIENCY, AUTOSOMAL DOMINANT; PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Identifiers:: MONDO: MONDO:0008316; MedGen: C2674321; Orphanet: 745; OMIM: 176860

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000891290	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 27, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16867987, 7482420, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000891290

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 27, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Multifunctional specificity of the protein C/activated protein C Gla domain.

Preston RJ, Ajzner E, Razzari C, Karageorgi S, Dua S, Dahlbäck B, Lane DA.

J Biol Chem. 2006 Sep 29;281(39):28850-7. Epub 2006 Jul 25.

PubMed [citation]

PMID:: 16867987

Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.

Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, Krawczak M, Lind B, Long GL, Poort SR, et al.

Thromb Haemost. 1995 May;73(5):876-89. Review. No abstract available.

PubMed [citation]

PMID:: 7482420

See all PubMed Citations (3)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000891290.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	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: Apr 23, 2022

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