NM_021939.4(FKBP10):c.877_879del (p.Tyr293del) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 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:: RCV000598565.2

Allele description [Variation Report for NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)]

NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)

Gene:

FKBP10:FKBP prolyl isomerase 10 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)

HGVS:

NC_000017.11:g.41819359_41819361del
NG_015860.1:g.11650_11652del
NM_021939.4:c.877_879delMANE SELECT
NP_068758.3:p.Tyr293del
LRG_12t1:c.877_879del
LRG_12:g.11650_11652del
NC_000017.10:g.39975611_39975613del
NM_021939.3:c.877_879del
NM_021939.3:c.877_879delTAC
NM_021939.4:c.877_879delTACMANE SELECT

Protein change:

Y293del

Links:

OMIM: 607063.0012; dbSNP: rs869320752

NCBI 1000 Genomes Browser:

rs869320752

Molecular consequence:

NM_021939.4:c.877_879del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709875	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 8, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709875

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 8, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000709875.2

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

Description

In-frame deletion of 1 amino acid in a non-repeat region; Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23712425, 34173012)

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

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine