NM_006242.4(PPP1R3D):c.874G>A (p.Glu292Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 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:: RCV004079539.1

Allele description [Variation Report for NM_006242.4(PPP1R3D):c.874G>A (p.Glu292Lys)]

NM_006242.4(PPP1R3D):c.874G>A (p.Glu292Lys)

Genes:

FAM217B:family with sequence similarity 217 member B [Gene - HGNC]
PPP1R3D:protein phosphatase 1 regulatory subunit 3D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

Preferred name:

NM_006242.4(PPP1R3D):c.874G>A (p.Glu292Lys)

HGVS:

NC_000020.11:g.59939058C>T
NM_001190826.2:c.-203+946C>T
NM_006242.4:c.874G>AMANE SELECT
NP_006233.1:p.Glu292Lys
NC_000020.10:g.58514113C>T
NM_006242.3:c.874G>A

Protein change:

E292K

Molecular consequence:

NM_001190826.2:c.-203+946C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_006242.4:c.874G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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cytochrome c oxidase subunit I, partial (mitochondrion) [Fistularia commersonii]
cytochrome c oxidase subunit I, partial (mitochondrion) [Fistularia commersonii]
gi|2065532121|gb|QXL74805.1|

Protein
Alternative sources of molybdenum for Methanococcus maripaludis and their implic...
Alternative sources of molybdenum for Methanococcus maripaludis and their implication for the evolution of molybdoenzymes
Alternative sources of molybdenum for Methanococcus maripaludis and their implication for the evolution of molybdoenzymes

BioProject
Methanococcus maripaludis
Methanococcus maripaludis
Methanococcus maripaludis Raw sequence reads

BioProject
Klebsiella sp. A22-KP18 16S ribosomal RNA gene, partial sequence
Klebsiella sp. A22-KP18 16S ribosomal RNA gene, partial sequence
gi|1001825598|gb|KU711917.1|

Nucleotide
cytochrome oxidase subunit 1, partial (mitochondrion) [Fistularia commersonii]
cytochrome oxidase subunit 1, partial (mitochondrion) [Fistularia commersonii]
gi|756766615|gb|AJM87254.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003535715	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003535715

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 22, 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, SCV003535715.2

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

Description

The c.874G>A (p.E292K) alteration is located in exon 1 (coding exon 1) of the PPP1R3D gene. This alteration results from a G to A substitution at nucleotide position 874, causing the glutamic acid (E) at amino acid position 292 to be replaced by a lysine (K). 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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