NM_000128.3(F11):c.1613C>T (p.Pro538Leu) AND Hereditary factor XI deficiency disease

Clinical significance:Likely pathogenic (Last evaluated: Feb 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000169580.2

Allele description [Variation Report for NM_000128.3(F11):c.1613C>T (p.Pro538Leu)]

NM_000128.3(F11):c.1613C>T (p.Pro538Leu)

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_000128.3(F11):c.1613C>T (p.Pro538Leu)
HGVS:
  • NC_000004.12:g.186287720C>T
  • NG_008051.1:g.26757C>T
  • NM_000128.3:c.1613C>T
  • NP_000119.1:p.Pro538Leu
  • LRG_583t1:c.1613C>T
  • LRG_583:g.26757C>T
  • LRG_583p1:p.Pro538Leu
  • NC_000004.11:g.187208874C>T
  • P03951:p.Pro538Leu
Protein change:
P538L
Links:
UniProtKB: P03951#VAR_054903; dbSNP: rs139695003
NCBI 1000 Genomes Browser:
rs139695003
Molecular consequence:
  • NM_000128.3:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary factor XI deficiency disease
Synonyms:
Plasma thromboplastin antecedent deficiency; PTA deficiency; F11 deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012897; MedGen: C0015523; Orphanet: 329; OMIM: 612416

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221084Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 26, 2015)
unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000899536NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomicscriteria provided, single submitter
Likely pathogenic
(Feb 1, 2019)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect.

Gailani D, Schmidt A, Sun MF, Bolton-Maggs PH, Bajaj SP.

J Thromb Haemost. 2007 Apr;5(4):781-7. Epub 2007 Jan 9.

PubMed [citation]
PMID:
17229051

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 Counsyl, SCV000221084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics, SCV000899536.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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