NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) AND not specified

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000116357.7

Allele description [Variation Report for NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)]

NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)

Gene:

AP4E1:adaptor related protein complex 4 subunit epsilon 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.2

Genomic location:

Preferred name:

NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)

HGVS:

NC_000015.10:g.50948126A>G
NG_031875.2:g.44455A>G
NM_001252127.2:c.1058A>G
NM_007347.5:c.1283A>GMANE SELECT
NP_001239056.1:p.Asn353Ser
NP_031373.2:p.Asn428Ser
LRG_732t1:c.1283A>G
LRG_732:g.44455A>G
LRG_732p1:p.Asn428Ser
NC_000015.9:g.51240323A>G
NG_031875.1:g.44455A>G
NM_007347.3:c.1283A>G
NM_007347.4:c.1283A>G

Protein change:

N353S

Links:

dbSNP: rs116796602

NCBI 1000 Genomes Browser:

rs116796602

Molecular consequence:

NM_001252127.2:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007347.5:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000150281	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000150281

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000150281.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine