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NM_058237.2(PPP4R4):c.37A>G (p.Ser13Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 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:
RCV004331125.1

Allele description [Variation Report for NM_058237.2(PPP4R4):c.37A>G (p.Ser13Gly)]

NM_058237.2(PPP4R4):c.37A>G (p.Ser13Gly)

Gene:
PPP4R4:protein phosphatase 4 regulatory subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.12
Genomic location:
Preferred name:
NM_058237.2(PPP4R4):c.37A>G (p.Ser13Gly)
HGVS:
  • NC_000014.9:g.94174502A>G
  • NM_001348143.2:c.-656A>G
  • NM_001348144.2:c.-389A>G
  • NM_001348145.2:c.37A>G
  • NM_020958.3:c.37A>G
  • NM_058237.2:c.37A>GMANE SELECT
  • NP_001335074.1:p.Ser13Gly
  • NP_066009.2:p.Ser13Gly
  • NP_478144.1:p.Ser13Gly
  • NC_000014.8:g.94640839A>G
  • NM_058237.1:c.37A>G
  • NR_145441.2:n.181A>G
Protein change:
S13G
Molecular consequence:
  • NM_001348143.2:c.-656A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348144.2:c.-389A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001348145.2:c.37A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020958.3:c.37A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058237.2:c.37A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_145441.2:n.181A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004006682Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 24, 2023) 		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, SCV004006682.2

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

Description

The c.37A>G (p.S13G) alteration is located in exon 1 (coding exon 1) of the PPP4R4 gene. This alteration results from a A to G substitution at nucleotide position 37, causing the serine (S) at amino acid position 13 to be replaced by a glycine (G). 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: Nov 24, 2024