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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:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000891290Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 27, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022