NM_000128.4(F11):c.1789G>A (p.Glu597Lys) AND Hereditary factor XI deficiency disease

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Dec 8, 2017
Review status:: criteria provided, conflicting classifications

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:: RCV000671144.4

Allele description [Variation Report for NM_000128.4(F11):c.1789G>A (p.Glu597Lys)]

NM_000128.4(F11):c.1789G>A (p.Glu597Lys)

Genes:

F11-AS1:F11 antisense RNA 1 [Gene - HGNC]
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.1789G>A (p.Glu597Lys)

HGVS:

NC_000004.12:g.186288525G>A
NG_008051.1:g.27562G>A
NM_000128.4:c.1789G>AMANE SELECT
NP_000119.1:p.Glu597Lys
NP_000119.1:p.Glu597Lys
LRG_583t1:c.1789G>A
LRG_583:g.27562G>A
LRG_583p1:p.Glu597Lys
NC_000004.11:g.187209679G>A
NM_000128.3:c.1789G>A
NR_033900.1:n.969C>T
P03951:p.Glu597Lys

Protein change:

E597K

Links:

UniProtKB: P03951#VAR_067954; UniProtKB/Swiss-Prot: VAR_067954; dbSNP: rs281875251

NCBI 1000 Genomes Browser:

rs281875251

Molecular consequence:

NM_000128.4:c.1789G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_033900.1:n.969C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Ascomycete sp. ZGZII04004 internal transcribed spacer 1, partial sequence; 5.8S ...
Ascomycete sp. ZGZII04004 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|73916953|gb|DQ124132.1|

Nucleotide

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
SCV000796094	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 8, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22159456, 23305485, 21649796, 16607084 Citation Link,
SCV004013079	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	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

SCV000796094

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Dec 8, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV004013079

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Guéguen P, Chauvin A, Quémener-Redon S, Pan-Petesch B, Férec C, Abgrall JF, Le Maréchal C.

Thromb Haemost. 2012 Jan;107(1):44-50. doi: 10.1160/TH11-06-0415. Epub 2011 Dec 8.

PubMed [citation]

PMID:: 22159456
PMCID:: PMC3399784

Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation.

Bicocchi MP, Rosano C, Acquila M.

Eur J Haematol. 2013 Apr;90(4):351-3. doi: 10.1111/ejh.12072. Epub 2013 Feb 15. No abstract available.

PubMed [citation]

PMID:: 23305485

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000796094.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV004013079.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine