NM_000128.4(F11):c.1853T>G (p.Ile618Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 11, 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:: RCV000059022.2

Allele description [Variation Report for NM_000128.4(F11):c.1853T>G (p.Ile618Ser)]

NM_000128.4(F11):c.1853T>G (p.Ile618Ser)

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.1853T>G (p.Ile618Ser)

HGVS:

NC_000004.12:g.186288589T>G
NG_008051.1:g.27626T>G
NM_000128.4:c.1853T>GMANE SELECT
NP_000119.1:p.Ile618Ser
NP_000119.1:p.Ile618Ser
LRG_583t1:c.1853T>G
LRG_583:g.27626T>G
LRG_583p1:p.Ile618Ser
NC_000004.11:g.187209743T>G
NM_000128.3:c.1853T>G
NR_033900.1:n.905A>C
P03951:p.Ile618Ser

Protein change:

I618S

Links:

UniProtKB: P03951#VAR_054906; UniProtKB/Swiss-Prot: VAR_054906; dbSNP: rs281875276

NCBI 1000 Genomes Browser:

rs281875276

Molecular consequence:

NM_000128.4:c.1853T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033900.1:n.905A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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centrosomal protein of 104 kDa [Antrostomus carolinensis]
centrosomal protein of 104 kDa [Antrostomus carolinensis]
gi|704288662|ref|XP_010175559.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090543	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV005078719	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090543

UniProtKB/Swiss-Prot

no classification provided

not provided

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

SCV005078719

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 11, 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

Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.

Hill M, McLeod F, Franks H, Gordon B, Dolan G.

Br J Haematol. 2005 Jun;129(6):825-9.

PubMed [citation]

PMID:: 15953011

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090543.1

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

#	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, SCV005078719.1

#	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 has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19652879, 16835901, 15953011)

#	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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