NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 2023
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:: RCV004417374.1

Allele description [Variation Report for NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala)]

NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala)

Genes:

AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

Preferred name:

NM_001253852.3(AP4B1):c.1028A>C (p.Glu343Ala)

HGVS:

NC_000001.11:g.113899990T>G
NG_031901.1:g.10130A>C
NG_057565.1:g.372T>G
NM_001253852.3:c.1028A>CMANE SELECT
NM_001253853.3:c.731A>C
NM_001308312.2:c.524A>C
NM_006594.5:c.1028A>C
NP_001240781.1:p.Glu343Ala
NP_001240782.1:p.Glu244Ala
NP_001295241.1:p.Glu175Ala
NP_006585.2:p.Glu343Ala
LRG_1219:g.372T>G
NC_000001.10:g.114442612T>G
NM_006594.2:c.1028A>C
NR_037864.1:n.487T>G
NR_125965.1:n.655T>G

Protein change:

E175A

Molecular consequence:

NM_001253852.3:c.1028A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001253853.3:c.731A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308312.2:c.524A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006594.5:c.1028A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_037864.1:n.487T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_125965.1:n.655T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004906108	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004906108

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 17, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004906108.1

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

Description

The c.1028A>C (p.E343A) alteration is located in exon 6 (coding exon 5) of the AP4B1 gene. This alteration results from a A to C substitution at nucleotide position 1028, causing the glutamic acid (E) at amino acid position 343 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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