NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 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:: RCV000426722.2

Allele description [Variation Report for NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)]

NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro)

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.1328T>C (p.Leu443Pro)

HGVS:

NC_000001.11:g.113896440A>G
NG_031901.1:g.13680T>C
NM_001253852.3:c.1328T>CMANE SELECT
NM_001253853.3:c.1031T>C
NM_001308312.2:c.824T>C
NM_006594.5:c.1328T>C
NP_001240781.1:p.Leu443Pro
NP_001240782.1:p.Leu344Pro
NP_001295241.1:p.Leu275Pro
NP_006585.2:p.Leu443Pro
NC_000001.10:g.114439062A>G
NM_001253852.1:c.1328T>C
NM_006594.3:c.1328T>C

Protein change:

L275P

Links:

dbSNP: rs746890435

NCBI 1000 Genomes Browser:

rs746890435

Molecular consequence:

NM_001253852.3:c.1328T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001253853.3:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308312.2:c.824T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006594.5:c.1328T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000531443	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 21, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000531443

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 21, 2020)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000531443.4

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in at least one other individual in the published literature with spastic paraplegia (Ebrahimi-Fakhari et al., 2018); This variant is associated with the following publications: (PMID: 29193663, 31525725, 31915823, 32285480)

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

Last Updated: Apr 23, 2022

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