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NM_000128.4(F11):c.408C>A (p.Cys136Ter) AND Hereditary factor XI deficiency disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 7, 2014
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:
RCV000169275.2

Allele description [Variation Report for NM_000128.4(F11):c.408C>A (p.Cys136Ter)]

NM_000128.4(F11):c.408C>A (p.Cys136Ter)

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.408C>A (p.Cys136Ter)
HGVS:
  • NC_000004.12:g.186274198C>A
  • NG_008051.1:g.13235C>A
  • NM_000128.4:c.408C>AMANE SELECT
  • NM_001354804.2:c.408C>A
  • NP_000119.1:p.Cys136Ter
  • NP_000119.1:p.Cys136Ter
  • NP_001341733.1:p.Cys136Ter
  • LRG_583t1:c.408C>A
  • LRG_583:g.13235C>A
  • LRG_583p1:p.Cys136Ter
  • NC_000004.11:g.187195352C>A
  • NM_000128.3:c.408C>A
Protein change:
C136*
Links:
dbSNP: rs143648758
NCBI 1000 Genomes Browser:
rs143648758
Molecular consequence:
  • NM_000128.4:c.408C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354804.2:c.408C>A - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000220580Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Aug 7, 2014) 		unknownliterature only

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

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Mitchell M, Mountford R, Butler R, Alhaq A, Dai L, Savidge G, Bolton-Maggs PH.

Hum Mutat. 2006 Aug;27(8):829.

PubMed [citation]
PMID:
16835901

Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

Zadra G, Asselta R, Malcovati M, Santagostino E, Peyvandi F, Mannucci PM, Tenchini ML, Duga S.

Haematologica. 2004 Nov;89(11):1332-40.

PubMed [citation]
PMID:
15531455

Details of each submission

From Counsyl, SCV000220580.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024