NM_000505.4(F12):c.1115G>C (p.Arg372Pro) AND FACTOR XII (LOCARNO)

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 1994
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000001224.3

Allele description [Variation Report for NM_000505.4(F12):c.1115G>C (p.Arg372Pro)]

NM_000505.4(F12):c.1115G>C (p.Arg372Pro)

Genes:

F12:coagulation factor XII [Gene - OMIM - HGNC]
SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_000505.4(F12):c.1115G>C (p.Arg372Pro)

Other names:

F12, ARG353PRO; R353P

HGVS:

NC_000005.10:g.177403994C>G
NG_007568.1:g.10583G>C
NM_000505.4:c.1115G>CMANE SELECT
NP_000496.2:p.Arg372Pro
LRG_145:g.10583G>C
NC_000005.9:g.176830995C>G
P00748:p.Arg372Pro

Protein change:

R372P; ARG353PRO

Links:

UniProtKB: P00748#VAR_006623; OMIM: 610619.0002; dbSNP: rs118204454

NCBI 1000 Genomes Browser:

rs118204454

Molecular consequence:

NM_000505.4:c.1115G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: FACTOR XII (LOCARNO)
Identifiers:

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ETS translocation variant 4 isoform 3 [Homo sapiens]
ETS translocation variant 4 isoform 3 [Homo sapiens]
gi|387598047|ref|NP_001248368.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021374	OMIM	no assertion criteria provided	Pathogenic (Aug 15, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021374

OMIM

no assertion criteria provided

Pathogenic
(Aug 15, 1994)

germline

literature only

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site.

Hovinga JK, Schaller J, Stricker H, Wuillemin WA, Furlan M, Lämmle B.

Blood. 1994 Aug 15;84(4):1173-81.

PubMed [citation]

PMID:: 8049433

Details of each submission

From OMIM, SCV000021374.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Hovinga et al. (1994) identified the molecular defect in factor XII (Locarno) (234000), which was found to differ in its dysfunctional properties from factor XII (Washington D.C.). It lacked both amidolytic and proteolytic activity. The amino acid sequence of peptides obtained from factor XII (Locarno) on activation with either trypsin or plasma kallikrein and dextran sulfate showed an arg353-to-pro (R353P) substitution. Thereby, the kallikrein cleavage site at arg353/val354 was lost.

This mutation has also been referred to ARG372PRO (R372P).

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

Last Updated: Apr 23, 2022

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