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NM_000312.4(PROC):c.989T>C (p.Leu330Pro) AND Thrombophilia due to protein C deficiency, autosomal dominant

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 17, 2022
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:
RCV003484567.2

Allele description [Variation Report for NM_000312.4(PROC):c.989T>C (p.Leu330Pro)]

NM_000312.4(PROC):c.989T>C (p.Leu330Pro)

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.989T>C (p.Leu330Pro)
HGVS:
  • NC_000002.12:g.127428549T>C
  • NG_016323.1:g.15130T>C
  • NM_000312.4:c.989T>CMANE SELECT
  • NM_001375602.1:c.1172T>C
  • NM_001375603.1:c.1154T>C
  • NM_001375604.1:c.1052T>C
  • NM_001375605.1:c.1091T>C
  • NM_001375606.1:c.1157T>C
  • NM_001375607.1:c.1175T>C
  • NM_001375608.1:c.932T>C
  • NM_001375609.1:c.965T>C
  • NM_001375610.1:c.983T>C
  • NM_001375611.1:c.989T>C
  • NM_001375613.1:c.989T>C
  • NP_000303.1:p.Leu330Pro
  • NP_000303.1:p.Leu330Pro
  • NP_001362531.1:p.Leu391Pro
  • NP_001362532.1:p.Leu385Pro
  • NP_001362533.1:p.Leu351Pro
  • NP_001362534.1:p.Leu364Pro
  • NP_001362535.1:p.Leu386Pro
  • NP_001362536.1:p.Leu392Pro
  • NP_001362537.1:p.Leu311Pro
  • NP_001362538.1:p.Leu322Pro
  • NP_001362539.1:p.Leu328Pro
  • NP_001362540.1:p.Leu330Pro
  • NP_001362542.1:p.Leu330Pro
  • LRG_599t1:c.989T>C
  • LRG_599:g.15130T>C
  • LRG_599p1:p.Leu330Pro
  • NC_000002.11:g.128186125T>C
  • NM_000312.3:c.989T>C
Protein change:
L311P
Molecular consequence:
  • NM_000312.4:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375602.1:c.1172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375603.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375604.1:c.1052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375605.1:c.1091T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375606.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375607.1:c.1175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375608.1:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375609.1:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375610.1:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375611.1:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375613.1:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV004229124Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
criteria provided, single submitter

(ACGS Guidelines, 2020)		Likely pathogenic
(Nov 17, 2022) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes22not providednot providednot providedclinical testing

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV004229124.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided2not provided2not provided

Last Updated: Feb 4, 2024