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NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs) AND Hereditary factor XI deficiency disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 2, 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:
RCV002310472.2

Allele description [Variation Report for NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)]

NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)

Gene:
F11:coagulation factor XI [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
4q35.2
Genomic location:
Preferred name:
NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)
HGVS:
  • NC_000004.12:g.186280236_186280237delinsAATA
  • NG_008051.1:g.19273_19274delinsAATA
  • NM_000128.4:c.879_880delinsAATAMANE SELECT
  • NP_000119.1:p.Ser294Ilefs
  • NP_000119.1:p.Ser294fs
  • LRG_583t1:c.879_880delTTinsAATA
  • LRG_583:g.19273_19274delinsAATA
  • LRG_583p1:p.Ser294Ilefs
  • NC_000004.11:g.187201390_187201391delinsAATA
  • NM_000128.3:c.879_880delTTinsAATA
Protein change:
S294fs
Molecular consequence:
  • NM_000128.4:c.879_880delinsAATA - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002602458Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))
Likely pathogenic
(Jan 2, 2022)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602458.2

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

Description

NM_000128.3(F11):c.879_880delTTinsAATA(S294Ifs*56) 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