NM_014931.4(PPP6R1):c.2279C>T (p.Pro760Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 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:: RCV004132669.1

Allele description [Variation Report for NM_014931.4(PPP6R1):c.2279C>T (p.Pro760Leu)]

NM_014931.4(PPP6R1):c.2279C>T (p.Pro760Leu)

Gene:

PPP6R1:protein phosphatase 6 regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_014931.4(PPP6R1):c.2279C>T (p.Pro760Leu)

HGVS:

NC_000019.10:g.55231829G>A
NM_014931.4:c.2279C>TMANE SELECT
NP_055746.3:p.Pro760Leu
NC_000019.9:g.55743197G>A
NM_014931.3:c.2279C>T

Protein change:

P760L

Molecular consequence:

NM_014931.4:c.2279C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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teneurin-3 isoform X1 [Rattus norvegicus]
teneurin-3 isoform X1 [Rattus norvegicus]
gi|1958683745|ref|XP_038950436.1|

Protein
PREDICTED: Rattus norvegicus teneurin transmembrane protein 3 (Tenm3), transcrip...
PREDICTED: Rattus norvegicus teneurin transmembrane protein 3 (Tenm3), transcript variant X19, mRNA
gi|2678903181|ref|XM_063275423.1|

Nucleotide
PREDICTED: Rattus norvegicus WD repeat domain 17 (Wdr17), transcript variant X5,...
PREDICTED: Rattus norvegicus WD repeat domain 17 (Wdr17), transcript variant X5, mRNA
gi|2678905330|ref|XM_017600361.3|

Nucleotide
PREDICTED: Pyrus x bretschneideri uncharacterized LOC103938653 (LOC103938653), t...
PREDICTED: Pyrus x bretschneideri uncharacterized LOC103938653 (LOC103938653), transcript variant X1, mRNA
gi|2250520987|ref|XM_048569972.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003621202	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003621202

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 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, SCV003621202.2

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

Description

The c.2279C>T (p.P760L) alteration is located in exon 19 (coding exon 18) of the PPP6R1 gene. This alteration results from a C to T substitution at nucleotide position 2279, causing the proline (P) at amino acid position 760 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: Oct 26, 2024

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