NM_004886.4(APBA3):c.1244G>C (p.Gly415Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 2022
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:: RCV004170110.1

Allele description [Variation Report for NM_004886.4(APBA3):c.1244G>C (p.Gly415Ala)]

NM_004886.4(APBA3):c.1244G>C (p.Gly415Ala)

Gene:

APBA3:amyloid beta precursor protein binding family A member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_004886.4(APBA3):c.1244G>C (p.Gly415Ala)

HGVS:

NC_000019.10:g.3752659C>G
NM_004886.4:c.1244G>CMANE SELECT
NP_004877.1:p.Gly415Ala
NC_000019.9:g.3752657C>G
NM_004886.3:c.1244G>C

Protein change:

G415A

Molecular consequence:

NM_004886.4:c.1244G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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glutamate ABC transporter substrate-binding protein [Microbacterium oryzae]
glutamate ABC transporter substrate-binding protein [Microbacterium oryzae]
gi|2679598100|dbj|GAA4187724.1||gnl BAAA|GAA4187724

Protein
BioProjects for Gene (Select 147804) (3)
BioProject
Homo sapiens F-box and WD repeat domain containing 8, mRNA (cDNA clone MGC:33534...
Homo sapiens F-box and WD repeat domain containing 8, mRNA (cDNA clone MGC:33534 IMAGE:4821240), complete cds
gi|34190635|gb|BC037296.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003655225	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003655225

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 25, 2022)

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, SCV003655225.2

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

Description

The c.1244G>C (p.G415A) alteration is located in exon 8 (coding exon 7) of the APBA3 gene. This alteration results from a G to C substitution at nucleotide position 1244, causing the glycine (G) at amino acid position 415 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: Oct 26, 2024

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