NM_000312.4(PROC):c.1212dup (p.Pro405fs) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Dec 23, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003139652.4

Allele description [Variation Report for NM_000312.4(PROC):c.1212dup (p.Pro405fs)]

NM_000312.4(PROC):c.1212dup (p.Pro405fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q14.3

Genomic location:

Preferred name:

NM_000312.4(PROC):c.1212dup (p.Pro405fs)

Other names:

p.Pro405Alafs*20

HGVS:

NC_000002.12:g.127428772dup
NG_016323.1:g.15353dup
NM_000312.4:c.1212dupMANE SELECT
NM_001375602.1:c.1395dup
NM_001375603.1:c.1377dup
NM_001375604.1:c.1275dup
NM_001375605.1:c.1314dup
NM_001375606.1:c.1380dup
NM_001375607.1:c.1398dup
NM_001375608.1:c.1155dup
NM_001375609.1:c.1188dup
NM_001375610.1:c.1206dup
NM_001375611.1:c.1212dup
NM_001375613.1:c.1212dup
NP_000303.1:p.Pro405fs
NP_000303.1:p.Pro405fs
NP_001362531.1:p.Pro466fs
NP_001362532.1:p.Pro460fs
NP_001362533.1:p.Pro426fs
NP_001362534.1:p.Pro439fs
NP_001362535.1:p.Pro461fs
NP_001362536.1:p.Pro467fs
NP_001362537.1:p.Pro386fs
NP_001362538.1:p.Pro397fs
NP_001362539.1:p.Pro403fs
NP_001362540.1:p.Pro405fs
NP_001362542.1:p.Pro405fs
LRG_599t1:c.1212dup
LRG_599:g.15353dup
LRG_599p1:p.Pro405fs
NC_000002.11:g.128186342_128186343insG
NC_000002.11:g.128186348dup
NM_000312.3:c.1212dup
NM_000312.3:c.1212dupG

Protein change:

P386fs

Links:

dbSNP: rs1333329860

NCBI 1000 Genomes Browser:

rs1333329860

Molecular consequence:

NM_000312.4:c.1212dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375602.1:c.1395dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375603.1:c.1377dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375604.1:c.1275dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375605.1:c.1314dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375606.1:c.1380dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375607.1:c.1398dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375608.1:c.1155dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375609.1:c.1188dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375610.1:c.1206dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375611.1:c.1212dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375613.1:c.1212dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV003826660	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 29, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004226519	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 23, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003826660

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 29, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004226519

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 23, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003826660.2

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

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226519.1

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

Description

PM2, PM3, PVS1_strong

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

Last Updated: Sep 29, 2024

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