NM_000128.4(F11):c.1026G>T (p.Gly342=) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 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:: RCV001958756.5

Allele description [Variation Report for NM_000128.4(F11):c.1026G>T (p.Gly342=)]

NM_000128.4(F11):c.1026G>T (p.Gly342=)

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.1026G>T (p.Gly342=)

HGVS:

NC_000004.12:g.186280383G>T
NG_008051.1:g.19420G>T
NM_000128.4:c.1026G>TMANE SELECT
NP_000119.1:p.Gly342=
LRG_583:g.19420G>T
NC_000004.11:g.187201537G>T

Links:

dbSNP: rs768894507

NCBI 1000 Genomes Browser:

rs768894507

Molecular consequence:

NM_000128.4:c.1026G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV002240931	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 16, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18024374, 11127865, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002240931

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 16, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

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

Citations

PubMed

Characterization of seven novel mutations causing factor XI deficiency.

Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Bauduer F, Samama M, Conard J, Denninger MH, Hani AS, Berruyer M, Feinstein D, Seligsohn U.

Haematologica. 2007 Oct;92(10):1375-80.

PubMed [citation]

PMID:: 18024374

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.

Ventura C, Santos AI, Tavares A, Gago T, Lavinha J, McVey JH, David D.

Thromb Haemost. 2000 Nov;84(5):833-40.

PubMed [citation]

PMID:: 11127865

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002240931.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change affects codon 342 of the F11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the F11 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs768894507, gnomAD 0.0009%). This variant has been observed in individual(s) with autosomal recessive factor XI deficiency (PMID: 11127865, 18024374). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1458941). Studies have shown that this variant results in utilization of a new donor site and introduces a premature termination codon (PMID: 11127865). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

#	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: May 7, 2024

ClinVar

Relating variation to medicine