NM_000128.4(F11):c.1136-7_1136-4del AND Hereditary factor XI deficiency disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 5, 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:: RCV000671916.1

Allele description [Variation Report for NM_000128.4(F11):c.1136-7_1136-4del]

NM_000128.4(F11):c.1136-7_1136-4del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

4q35.2

Genomic location:

Preferred name:

NM_000128.4(F11):c.1136-7_1136-4del

HGVS:

NC_000004.12:g.186284085_186284088del
NG_008051.1:g.23122_23125del
NM_000128.4:c.1136-7_1136-4delMANE SELECT
LRG_583t1:c.1136-7_1136-4del
LRG_583:g.23122_23125del
NC_000004.11:g.187205239_187205242del
NM_000128.3:c.1136-7_1136-4del
NM_000128.3:c.1136-7_1136-4delGTTG

Links:

dbSNP: rs1439195599

NCBI 1000 Genomes Browser:

rs1439195599

Molecular consequence:

NM_000128.4:c.1136-7_1136-4del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000796950	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jan 5, 2018)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25681615, 27067486, 15946525 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796950

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jan 5, 2018)

unknown

clinical testing

PubMed (3)
[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

Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.

Liu H, Wang HF, Tang L, Yang Y, Wang QY, Zeng W, Wu YY, Cheng ZP, Hu B, Guo T, Hu Y.

Gene. 2015 Apr 25;561(1):101-6. doi: 10.1016/j.gene.2015.02.021. Epub 2015 Feb 11.

PubMed [citation]

PMID:: 25681615

Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.

Shao Y, Cao Y, Lu Y, Dai J, Ding Q, Wang X, Xi X, Wang H.

Blood Cells Mol Dis. 2016 May;58:29-34. doi: 10.1016/j.bcmd.2016.01.004. Epub 2016 Jan 18.

PubMed [citation]

PMID:: 27067486

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000796950.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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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