U.S. flag

An official website of the United States government

NM_000128.4(F11):c.174_175dup (p.Phe59fs) AND Hereditary factor XI deficiency disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 8, 2022
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:
RCV002306474.2

Allele description [Variation Report for NM_000128.4(F11):c.174_175dup (p.Phe59fs)]

NM_000128.4(F11):c.174_175dup (p.Phe59fs)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.174_175dup (p.Phe59fs)
HGVS:
  • NC_000004.12:g.186271725CT[3]
  • NG_008051.1:g.10762CT[3]
  • NM_000128.4:c.174_175dupMANE SELECT
  • NM_001354804.2:c.174_175dup
  • NP_000119.1:p.Phe59Serfs
  • NP_000119.1:p.Phe59fs
  • NP_001341733.1:p.Phe59fs
  • LRG_583t1:c.172_173CT[3]
  • LRG_583:g.10762CT[3]
  • LRG_583p1:p.Phe59Serfs
  • NC_000004.11:g.187192879CT[3]
  • NM_000128.3:c.172_173CT[3]
Protein change:
F59fs
Molecular consequence:
  • NM_000128.4:c.174_175dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354804.2:c.174_175dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602500Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Jan 8, 2022) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602500.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000128.3(F11):c.174_175dupCT(F59Sfs*21) is expected to be pathogenic in the context of factor XI deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in F11, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Mar 30, 2024