NM_000128.4(F11):c.1217A>C (p.His406Pro) AND Hereditary factor XI deficiency disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 14, 2017
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:: RCV000665450.1

Allele description [Variation Report for NM_000128.4(F11):c.1217A>C (p.His406Pro)]

NM_000128.4(F11):c.1217A>C (p.His406Pro)

Gene:

F11:coagulation factor XI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

Preferred name:

NM_000128.4(F11):c.1217A>C (p.His406Pro)

HGVS:

NC_000004.12:g.186284173A>C
NG_008051.1:g.23210A>C
NM_000128.4:c.1217A>CMANE SELECT
NP_000119.1:p.His406Pro
NP_000119.1:p.His406Pro
LRG_583t1:c.1217A>C
LRG_583:g.23210A>C
LRG_583p1:p.His406Pro
NC_000004.11:g.187205327A>C
NM_000128.3:c.1217A>C

Protein change:

H406P

Links:

dbSNP: rs901732635

NCBI 1000 Genomes Browser:

rs901732635

Molecular consequence:

NM_000128.4:c.1217A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary factor XI deficiency disease
Synonyms:: Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012897; MeSH: D005173; MedGen: C0015523; Orphanet: 329; OMIM: 612416

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789579	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 14, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18388506, 19652879 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789579

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Feb 14, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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

Four novel FXI gene mutations in three factor XI- deficient patients.

de Raucourt E, de Mazancourt P, Quélin F.

Blood Coagul Fibrinolysis. 2008 Apr;19(3):240-2. doi: 10.1097/MBC.0b013e3282f6d256.

PubMed [citation]

PMID:: 18388506

Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.

Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ.

Thromb Haemost. 2009 Aug;102(2):287-301. doi: 10.1160/TH09-01-0044.

PubMed [citation]

PMID:: 19652879

Details of each submission

From Counsyl, SCV000789579.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Mar 30, 2024

ClinVar

Relating variation to medicine