NM_000944.5(PPP3CA):c.192A>G (p.Ile64Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 28, 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:: RCV004761518.1

Allele description [Variation Report for NM_000944.5(PPP3CA):c.192A>G (p.Ile64Met)]

NM_000944.5(PPP3CA):c.192A>G (p.Ile64Met)

Gene:

PPP3CA:protein phosphatase 3 catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Preferred name:

NM_000944.5(PPP3CA):c.192A>G (p.Ile64Met)

HGVS:

NC_000004.12:g.101195983T>C
NM_000944.5:c.192A>GMANE SELECT
NM_001130691.2:c.192A>G
NM_001130692.2:c.192A>G
NP_000935.1:p.Ile64Met
NP_001124163.1:p.Ile64Met
NP_001124164.1:p.Ile64Met
NC_000004.11:g.102117140T>C
NM_000944.4:c.192A>G

Protein change:

I64M

Molecular consequence:

NM_000944.5:c.192A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130691.2:c.192A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130692.2:c.192A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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C-type lectin domain family 18 member B isoform X7 [Homo sapiens]
C-type lectin domain family 18 member B isoform X7 [Homo sapiens]
gi|2217489175|ref|XP_047302590.1|

Protein
Anthus leucophrys leucophrys voucher SAFRING GA77051 myoglobin (myo) gene, intro...
Anthus leucophrys leucophrys voucher SAFRING GA77051 myoglobin (myo) gene, intron 2
gi|1495982400|gb|MF872006.1|

Nucleotide
Aspergillus parafelis strain CBS DTO_341-E6 calmodulin (calM) gene, partial cds
Aspergillus parafelis strain CBS DTO_341-E6 calmodulin (calM) gene, partial cds
gi|1233055124|gb|KY829133.1|

Nucleotide
Triticum transcription factor (MybA) gene, partial cds.
Triticum transcription factor (MybA) gene, partial cds.
PopSet: 132449308

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005370981	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005370981

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 28, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005370981.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Oct 20, 2024

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