NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs) AND Hereditary spastic paraplegia 15

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 17, 2021
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:: RCV002310176.2

Allele description [Variation Report for NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs)]

NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs)

Gene:

ZFYVE26:zinc finger FYVE-type containing 26 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

14q24.1

Genomic location:

Preferred name:

NM_015346.4(ZFYVE26):c.4282_4283delinsT (p.Arg1428fs)

HGVS:

NC_000014.9:g.67782869_67782870delinsA
NG_011836.1:g.38720_38721delinsT
NG_011836.2:g.38720_38721delinsT
NM_015346.4:c.4282_4283delinsTMANE SELECT
NP_056161.2:p.Arg1428fs
NC_000014.8:g.68249586_68249587delinsA

Protein change:

R1428fs

Molecular consequence:

NM_015346.4:c.4282_4283delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary spastic paraplegia 15 (SPG15)
Synonyms:: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; Spastic paraplegia 15; Spastic paraplegia and retinal degeneration; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010044; MedGen: C1849128; Orphanet: 100996; OMIM: 270700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002602157	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Dec 17, 2021)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602157

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Dec 17, 2021)

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., SCV002602157.2

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

Description

NM_015346.3(ZFYVE26):c.4282_4283delCGinsT(R1428Wfs*16) is expected to be pathogenic in the context of spastic paraplegia type 15. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ZFYVE26, 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: Dec 24, 2022

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