NM_000128.4(F11):c.1253G>T (p.Gly418Val) AND Hereditary factor XI deficiency disease

Germline classification:: Likely pathogenic (4 submissions)
Last evaluated:: Nov 17, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000012678.34

Allele description [Variation Report for NM_000128.4(F11):c.1253G>T (p.Gly418Val)]

NM_000128.4(F11):c.1253G>T (p.Gly418Val)

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.1253G>T (p.Gly418Val)

Other names:

F11, GLY400VAL; G400V

HGVS:

NC_000004.12:g.186284209G>T
NG_008051.1:g.23246G>T
NM_000128.4:c.1253G>TMANE SELECT
NP_000119.1:p.Gly418Val
NP_000119.1:p.Gly418Val
LRG_583t1:c.1253G>T
LRG_583:g.23246G>T
LRG_583p1:p.Gly418Val
NC_000004.11:g.187205363G>T
NM_000128.3:c.1253G>T
P03951:p.Gly418Val

Protein change:

G418V; GLY400VAL

Links:

UniProtKB: P03951#VAR_054901; OMIM: 264900.0014; dbSNP: rs121965071

NCBI 1000 Genomes Browser:

rs121965071

Molecular consequence:

NM_000128.4:c.1253G>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

Recent activity

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C-terminal-binding protein 1 isoform X1 [Polypterus senegalus]
C-terminal-binding protein 1 isoform X1 [Polypterus senegalus]
gi|1993921103|ref|XP_039630636.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032913	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000220372	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 6, 2014)	unknown	literature only	PubMed (4) [See all records that cite these PMIDs] 21668437, 19652879, 16787881, 15026311 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link,
SCV001810419	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 22, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003831087	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 17, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee KA.

Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.

PubMed [citation]

PMID:: 21668437

Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.

Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ.

Thromb Haemost. 2009 Aug;102(2):287-301. doi: 10.1160/TH09-01-0044.

PubMed [citation]

PMID:: 19652879

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000032913.2

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

Description

In a patient with factor XI levels less than 20% of normal and with a family history indicating dominant transmission of factor XI deficiency (612416), Kravtsov et al. (2004) identified a heterozygous 1296G-T transversion in exon 11 of the F11 gene, resulting in a gly400-to-val (G400V) substitution. The mutant was not secreted by transfected fibroblasts. In cotransfection experiments with a wildtype factor XI construct, constructs with the mutation reduced wildtype secretion approximately 50%, consistent with a dominant-negative effect.

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

From Counsyl, SCV000220372.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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 Genome-Nilou Lab, SCV001810419.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003831087.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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