NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs) AND Hereditary spastic paraplegia 48

Germline classification:: Pathogenic (1 submission)
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:: RCV001391433.1

Allele description [Variation Report for NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs)]

NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs)

Gene:

AP5Z1:adaptor related protein complex 5 subunit zeta 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs)

HGVS:

NC_000007.14:g.4789854_4789857del
NG_028111.1:g.19224_19227del
NM_001364858.1:c.1262_1265del
NM_014855.3:c.1730_1733delMANE SELECT
NP_001351787.1:p.Asn421fs
NP_055670.1:p.Asn577fs
LRG_1247t1:c.1730_1733del
LRG_1247:g.19224_19227del
LRG_1247p1:p.Asn577fs
NC_000007.13:g.4829485_4829488del
NR_157345.1:n.1861_1864del

Protein change:

N421fs

Links:

dbSNP: rs1189027155

NCBI 1000 Genomes Browser:

rs1189027155

Molecular consequence:

NM_001364858.1:c.1262_1265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014855.3:c.1730_1733del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_157345.1:n.1861_1864del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hereditary spastic paraplegia 48
Synonyms:: Spastic paraplegia 48, autosomal recessive; Spastic paraplegia 48
Identifiers:: MONDO: MONDO:0013342; MedGen: C3150901; Orphanet: 306511; OMIM: 613647

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
SCV001451123	Paris Brain Institute, Inserm - ICM	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001451123

Paris Brain Institute, Inserm - ICM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Paris Brain Institute, Inserm - ICM, SCV001451123.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine