NM_000312.4(PROC):c.1111A>G (p.Asn371Asp) AND Thrombophilia due to protein C deficiency, autosomal dominant

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 4, 2023
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:: RCV000865274.9

Allele description [Variation Report for NM_000312.4(PROC):c.1111A>G (p.Asn371Asp)]

NM_000312.4(PROC):c.1111A>G (p.Asn371Asp)

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.1111A>G (p.Asn371Asp)

HGVS:

NC_000002.12:g.127428671A>G
NG_016323.1:g.15252A>G
NM_000312.4:c.1111A>GMANE SELECT
NM_001375602.1:c.1294A>G
NM_001375603.1:c.1276A>G
NM_001375604.1:c.1174A>G
NM_001375605.1:c.1213A>G
NM_001375606.1:c.1279A>G
NM_001375607.1:c.1297A>G
NM_001375608.1:c.1054A>G
NM_001375609.1:c.1087A>G
NM_001375610.1:c.1105A>G
NM_001375611.1:c.1111A>G
NM_001375613.1:c.1111A>G
NP_000303.1:p.Asn371Asp
NP_001362531.1:p.Asn432Asp
NP_001362532.1:p.Asn426Asp
NP_001362533.1:p.Asn392Asp
NP_001362534.1:p.Asn405Asp
NP_001362535.1:p.Asn427Asp
NP_001362536.1:p.Asn433Asp
NP_001362537.1:p.Asn352Asp
NP_001362538.1:p.Asn363Asp
NP_001362539.1:p.Asn369Asp
NP_001362540.1:p.Asn371Asp
NP_001362542.1:p.Asn371Asp
LRG_599t1:c.1111A>G
LRG_599:g.15252A>G
NC_000002.11:g.128186247A>G
NM_000312.3:c.1111A>G

Protein change:

N352D

Links:

dbSNP: rs145800354

NCBI 1000 Genomes Browser:

rs145800354

Molecular consequence:

NM_000312.4:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375602.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375603.1:c.1276A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375604.1:c.1174A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375605.1:c.1213A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375606.1:c.1279A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375607.1:c.1297A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375608.1:c.1054A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375609.1:c.1087A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375610.1:c.1105A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375611.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001375613.1:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Gene Links for Protein (Select 2462569104) (1)
Gene
NEMP2 nuclear envelope integral membrane protein 2 [Homo sapiens]
NEMP2 nuclear envelope integral membrane protein 2 [Homo sapiens]
Gene ID:100131211

Gene
nuclear envelope integral membrane protein 2 isoform X7 [Homo sapiens]
nuclear envelope integral membrane protein 2 isoform X7 [Homo sapiens]
gi|2462569104|ref|XP_054196026.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001006211	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 4, 2023)	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

SCV001006211

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 4, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001006211.6

#	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

Last Updated: Sep 29, 2024

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