NM_000128.4(F11):c.756A>T (p.Arg252Ser) AND Hereditary factor XI deficiency disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 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:: RCV000671601.1

Allele description [Variation Report for NM_000128.4(F11):c.756A>T (p.Arg252Ser)]

NM_000128.4(F11):c.756A>T (p.Arg252Ser)

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.756A>T (p.Arg252Ser)

HGVS:

NC_000004.12:g.186280012A>T
NG_008051.1:g.19049A>T
NM_000128.4:c.756A>TMANE SELECT
NP_000119.1:p.Arg252Ser
NP_000119.1:p.Arg252Ser
LRG_583t1:c.756A>T
LRG_583:g.19049A>T
LRG_583p1:p.Arg252Ser
NC_000004.11:g.187201166A>T
NM_000128.3:c.756A>T

Protein change:

R252S

Links:

dbSNP: rs1441160252

NCBI 1000 Genomes Browser:

rs1441160252

Molecular consequence:

NM_000128.4:c.756A>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796589	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 28, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20398070, 16835901 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796589

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Dec 28, 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

Thrombin generation in patients with factor XI deficiency and clinical bleeding risk.

Rugeri L, Quélin F, Chatard B, De Mazancourt P, Negrier C, Dargaud Y.

Haemophilia. 2010 Sep 1;16(5):771-7. doi: 10.1111/j.1365-2516.2010.02246.x. Epub 2010 Apr 8.

PubMed [citation]

PMID:: 20398070

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Mitchell M, Mountford R, Butler R, Alhaq A, Dai L, Savidge G, Bolton-Maggs PH.

Hum Mutat. 2006 Aug;27(8):829.

PubMed [citation]

PMID:: 16835901

Details of each submission

From Counsyl, SCV000796589.1

#	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

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