NM_033256.3(PPP1R14A):c.374G>T (p.Arg125Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 20, 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:: RCV004267154.1

Allele description [Variation Report for NM_033256.3(PPP1R14A):c.374G>T (p.Arg125Leu)]

NM_033256.3(PPP1R14A):c.374G>T (p.Arg125Leu)

Gene:

PPP1R14A:protein phosphatase 1 regulatory inhibitor subunit 14A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_033256.3(PPP1R14A):c.374G>T (p.Arg125Leu)

HGVS:

NC_000019.10:g.38251388C>A
NM_001243947.2:c.293G>T
NM_033256.3:c.374G>TMANE SELECT
NP_001230876.1:p.Arg98Leu
NP_150281.1:p.Arg125Leu
NC_000019.9:g.38742028C>A
NM_033256.2:c.374G>T

Protein change:

R125L

Molecular consequence:

NM_001243947.2:c.293G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_033256.3:c.374G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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DUF5776 domain-containing protein [Levilactobacillus tongjiangensis]
DUF5776 domain-containing protein [Levilactobacillus tongjiangensis]
gi|2821067617|ref|WP_382338908.1|

Protein
hypothetical protein [Levilactobacillus tongjiangensis]
hypothetical protein [Levilactobacillus tongjiangensis]
gi|2821067615|ref|WP_382338906.1|

Protein
GGDEF domain-containing protein [Levilactobacillus tongjiangensis]
GGDEF domain-containing protein [Levilactobacillus tongjiangensis]
gi|2821067390|ref|WP_382338681.1|

Protein
F-box/LRR-repeat protein 14 isoform X1 [Homo sapiens]
F-box/LRR-repeat protein 14 isoform X1 [Homo sapiens]
gi|2462530217|ref|XP_054227182.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003895020	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 20, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003895020

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 20, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003895020.2

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

Description

The c.374G>T (p.R125L) alteration is located in exon 4 (coding exon 4) of the PPP1R14A gene. This alteration results from a G to T substitution at nucleotide position 374, causing the arginine (R) at amino acid position 125 to be replaced by a leucine (L). 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: Nov 10, 2024

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