NM_000128.4(F11):c.680G>A (p.Gly227Asp) AND Hereditary factor XI deficiency disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 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:: RCV000667883.1

Allele description [Variation Report for NM_000128.4(F11):c.680G>A (p.Gly227Asp)]

NM_000128.4(F11):c.680G>A (p.Gly227Asp)

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.680G>A (p.Gly227Asp)

HGVS:

NC_000004.12:g.186276315G>A
NG_008051.1:g.15352G>A
NM_000128.4:c.680G>AMANE SELECT
NP_000119.1:p.Gly227Asp
NP_000119.1:p.Gly227Asp
LRG_583t1:c.680G>A
LRG_583:g.15352G>A
LRG_583p1:p.Gly227Asp
NC_000004.11:g.187197469G>A
NM_000128.3:c.680G>A

Protein change:

G227D

Links:

dbSNP: rs1489595409

NCBI 1000 Genomes Browser:

rs1489595409

Molecular consequence:

NM_000128.4:c.680G>A - 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
SCV000792395	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 27, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792395

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jun 27, 2017)

unknown

clinical testing

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

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

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

Bastida JM, Del Rey M, Lozano ML, Sarasquete ME, Benito R, Fontecha ME, Fisac R, García-Frade LJ, Aguilar C, Martínez MP, Pardal E, Aguilera C, Pérez B, Ramos R, Cardesa MR, Martin-Antorán JM, Silvestre LA, Cebeira MJ, Bermejo N, Riesco S, Mendoza MC, García-Sanz R, et al.

Haemophilia. 2016 Jul;22(4):590-7. doi: 10.1111/hae.12908. Epub 2016 Feb 15.

PubMed [citation]

PMID:: 26879396

Details of each submission

From Counsyl, SCV000792395.1

#	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: Mar 30, 2024

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