NM_012268.4(PLD3):c.1067G>A (p.Arg356His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 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:: RCV004790783.1

Allele description [Variation Report for NM_012268.4(PLD3):c.1067G>A (p.Arg356His)]

NM_012268.4(PLD3):c.1067G>A (p.Arg356His)

Gene:

PLD3:phospholipase D family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NM_012268.4(PLD3):c.1067G>A (p.Arg356His)

Other names:

p.Arg356His

HGVS:

NC_000019.10:g.40376656G>A
NG_034098.1:g.33232G>A
NM_001031696.4:c.1067G>A
NM_001291311.2:c.1067G>A
NM_012268.4:c.1067G>AMANE SELECT
NP_001026866.1:p.Arg356His
NP_001278240.1:p.Arg356His
NP_036400.2:p.Arg356His
NC_000019.9:g.40882563G>A

Protein change:

R356H

Molecular consequence:

NM_001031696.4:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001291311.2:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_012268.4:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005408832	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 2, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 27081517, 30837833, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005408832

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 2, 2023)

germline

clinical testing

PubMed (3)
[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

Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease.

Schulte EC, Kurz A, Alexopoulos P, Hampel H, Peters A, Gieger C, Rujescu D, Diehl-Schmid J, Winkelmann J.

Hum Genome Var. 2015;2:14028. doi: 10.1038/hgv.2014.28.

PubMed [citation]

PMID:: 27081517
PMCID:: PMC4785568

PLD3 Rare Variants Identified in Late-Onset Alzheimer's Disease Affect Amyloid-β Levels in Cellular Model.

Tan M, Li J, Ma F, Zhang X, Zhao Q, Cao X.

Front Neurosci. 2019;13:116. doi: 10.3389/fnins.2019.00116.

PubMed [citation]

PMID:: 30837833
PMCID:: PMC6382672

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005408832.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

BS1

#	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: Nov 24, 2024

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