NM_006242.4(PPP1R3D):c.232T>C (p.Ser78Pro) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 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:: RCV004072739.1

Allele description [Variation Report for NM_006242.4(PPP1R3D):c.232T>C (p.Ser78Pro)]

NM_006242.4(PPP1R3D):c.232T>C (p.Ser78Pro)

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.232T>C (p.Ser78Pro)

HGVS:

NC_000020.11:g.59939700A>G
NG_200702.1:g.34A>G
NM_001190826.2:c.-203+1588A>G
NM_006242.4:c.232T>CMANE SELECT
NP_006233.1:p.Ser78Pro
NC_000020.10:g.58514755A>G
NM_006242.3:c.232T>C

Protein change:

S78P

Molecular consequence:

NM_001190826.2:c.-203+1588A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_006242.4:c.232T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Bacillus subtilis strain JNFE1126 chromosome, complete genome
Bacillus subtilis strain JNFE1126 chromosome, complete genome
gi|2181068702|ref|NZ_CP070485.1|

Nucleotide
N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X1 [Ho...
N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) isoform X1 [Homo sapiens]
gi|2462528741|ref|XP_054226471.1|

Protein
Tooth Demineralization
Tooth Demineralization
A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the form...<br/>Year introduced: 1992

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003529216	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003529216

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 26, 2022)

germline

clinical testing

Citation Link

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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, SCV003529216.2

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

Description

The c.232T>C (p.S78P) alteration is located in exon 1 (coding exon 1) of the PPP1R3D gene. This alteration results from a T to C substitution at nucleotide position 232, causing the serine (S) at amino acid position 78 to be replaced by a proline (P). 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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