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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602458	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Jan 2, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602458

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Jan 2, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002602458.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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