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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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003621202Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 22, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003621202.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024