U.S. flag

An official website of the United States government

NM_033215.5(PPP1R3F):c.828C>G (p.Asn276Lys) AND PPP1R3F Associated Neurodevelopmental Disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2024
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:
RCV004555965.1

Allele description [Variation Report for NM_033215.5(PPP1R3F):c.828C>G (p.Asn276Lys)]

NM_033215.5(PPP1R3F):c.828C>G (p.Asn276Lys)

Gene:
PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_033215.5(PPP1R3F):c.828C>G (p.Asn276Lys)
HGVS:
  • NC_000023.11:g.49270697C>G
  • NG_021273.1:g.5855C>G
  • NG_021273.2:g.5906C>G
  • NM_001184745.2:c.-32+764C>G
  • NM_033215.5:c.828C>GMANE SELECT
  • NP_149992.3:p.Asn276Lys
  • NC_000023.10:g.49127160C>G
Protein change:
N276K
Molecular consequence:
  • NM_001184745.2:c.-32+764C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033215.5:c.828C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PPP1R3F Associated Neurodevelopmental Disorder
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005045061Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 9, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Genomics Laboratory, Washington University in St. Louis, SCV005045061.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The PPP1R3F c.828C>G (p.Asn276Lys) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to PPP1R3F function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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

Last Updated: May 26, 2024