NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 2020
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:: RCV001509451.5

Allele description [Variation Report for NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)]

NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)

Gene:

AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)

HGVS:

NC_000014.9:g.31066320C>T
NG_031913.1:g.46215C>T
NM_001128126.3:c.124C>TMANE SELECT
NM_001254726.2:c.124C>T
NM_001254727.2:c.124C>T
NM_001254728.2:c.124C>T
NM_001254729.2:c.124C>T
NM_007077.5:c.124C>T
NP_001121598.1:p.Arg42Ter
NP_001241655.1:p.Arg42Ter
NP_001241656.1:p.Arg42Ter
NP_001241657.1:p.Arg42Ter
NP_001241658.1:p.Arg42Ter
NP_009008.2:p.Arg42Ter
NP_009008.2:p.Arg42Ter
NC_000014.8:g.31535526C>T
NM_007077.4:c.124C>T
p.Arg42*

Protein change:

R42*; ARG42TER

Links:

OMIM: 607243.0001; dbSNP: rs387906970

NCBI 1000 Genomes Browser:

rs387906970

Molecular consequence:

NM_001128126.3:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001254726.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001254727.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001254728.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001254729.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007077.5:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001716178	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 12, 2020)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 27444738, 21620353, 23167973, 24700674, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001716178

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 12, 2020)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli FM.

Eur J Neurol. 2016 Oct;23(10):1580-7. doi: 10.1111/ene.13085. Epub 2016 Jul 22.

PubMed [citation]

PMID:: 27444738

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L.

Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27.

PubMed [citation]

PMID:: 21620353
PMCID:: PMC3113253

See all PubMed Citations (5)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001716178.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

Description

PVS1, PM2, PP1

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

Last Updated: Sep 29, 2024

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