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NM_000128.4(F11):c.1853T>G (p.Ile618Ser) AND F11-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 29, 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:
RCV003905028.1

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)

Name:
F11-related disorder
Synonyms:
F11-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004722091PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 29, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004722091.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The F11 c.1853T>G variant is predicted to result in the amino acid substitution p.Ile618Ser. This variant, also referred to as c.1896T>G (p.Ile600Ser), has previously been reported to be causative for Hemophilia C (see patient IDs 033061 and 5964 in Mitchell et al. 2006. PubMed ID: 16835901; family 12 in Hill et al. 2005. PubMed ID: 15953011). In Mitchell et al., patient 033061 was homozygous for the c.1853T>G variant and exhibited <2% normal FXI protein activity compared to patient 5946 which was heterozygous for the variant and exhibited 23% FXI activity. Acquired disease states including liver disease, may also alter FXI activity. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 23, 2024