NM_000128.4(F11):c.1789G>A (p.Glu597Lys) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jun 5, 2023
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:: RCV000059020.2

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090541	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (2) [See all records that cite these PMIDs] 22159456, 16607084
SCV005325155	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090541

UniProtKB/Swiss-Prot

no classification provided

not provided

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

SCV005325155

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 5, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

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

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P.

Blood Coagul Fibrinolysis. 2006 Jan;17(1):69-73.

PubMed [citation]

PMID:: 16607084

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090541.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV005325155.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21649796, 19652879, 23305485, 22159456, 16607084)

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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