NM_000505.4(F12):c.983C>A (p.Thr328Lys) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 31, 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:: RCV000763138.2

Allele description [Variation Report for NM_000505.4(F12):c.983C>A (p.Thr328Lys)]

NM_000505.4(F12):c.983C>A (p.Thr328Lys)

Gene:

F12:coagulation factor XII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_000505.4(F12):c.983C>A (p.Thr328Lys)

Other names:

F12, THR309LYS; Thr328Lys

HGVS:

NC_000005.10:g.177404231G>T
NG_007568.1:g.10346C>A
NM_000505.4:c.983C>AMANE SELECT
NP_000496.2:p.Thr328Lys
NP_000496.2:p.Thr328Lys
LRG_145t1:c.983C>A
LRG_145:g.10346C>A
LRG_145p1:p.Thr328Lys
NC_000005.9:g.176831232G>T
NM_000505.3:c.983C>A
P00748:p.Thr328Lys

Note:

NCBI staff reviewed the sequence information reported in PubMed 16638441 to determine the location of this allele on current reference sequence (T328K).

Protein change:

T328K

Links:

UniProtKB: P00748#VAR_031501; OMIM: 610619.0006; dbSNP: rs118204456

NCBI 1000 Genomes Browser:

rs118204456

Molecular consequence:

NM_000505.4:c.983C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Factor XII deficiency disease
Synonyms:: F12 DEFICIENCY; HAF DEFICIENCY; Coagulation factor 12 deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009315; MedGen: C0015526; Orphanet: 330; OMIM: 234000; Human Phenotype Ontology: HP:0004841

Name:: Hereditary angioedema type 3 (HAE3)
Synonyms:: ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; ESTROGEN-RELATED HAE; ESTROGEN-SENSITIVE HAE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012526; MedGen: C1857728; OMIM: 610618

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000893698	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 31, 2018)	unknown	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

SCV000893698

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 31, 2018)

unknown

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	unknown	unknown	not provided	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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893698.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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