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NM_000128.4(F11):c.723C>G (p.Phe241Leu) AND Hereditary factor XI deficiency disease

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 8, 2017
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:
RCV000670643.2

Allele description [Variation Report for NM_000128.4(F11):c.723C>G (p.Phe241Leu)]

NM_000128.4(F11):c.723C>G (p.Phe241Leu)

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.723C>G (p.Phe241Leu)
HGVS:
  • NC_000004.12:g.186276358C>G
  • NG_008051.1:g.15395C>G
  • NM_000128.4:c.723C>GMANE SELECT
  • NP_000119.1:p.Phe241Leu
  • NP_000119.1:p.Phe241Leu
  • LRG_583t1:c.723C>G
  • LRG_583:g.15395C>G
  • LRG_583p1:p.Phe241Leu
  • NC_000004.11:g.187197512C>G
  • NM_000128.3:c.723C>G
  • P03951:p.Phe241Leu
Protein change:
F241L
Links:
UniProtKB: P03951#VAR_067938; UniProtKB/Swiss-Prot: VAR_067938; dbSNP: rs281875265
NCBI 1000 Genomes Browser:
rs281875265
Molecular consequence:
  • NM_000128.4:c.723C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000795521Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 8, 2017) 		unknownclinical testing

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

Citation Link,

SCV004099468Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Likely pathogenic
(Oct 30, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Three dominant-negative mutations in factor XI-deficient patients.

Dai L, Rangarajan S, Mitchell M.

Haemophilia. 2011 Sep;17(5):e919-22. doi: 10.1111/j.1365-2516.2011.02519.x. Epub 2011 Apr 3.

PubMed [citation]
PMID:
21457405

Details of each submission

From Counsyl, SCV000795521.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004099468.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024