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NM_033215.5(PPP1R3F):c.277G>A (p.Glu93Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 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:
RCV004659974.1

Allele description [Variation Report for NM_033215.5(PPP1R3F):c.277G>A (p.Glu93Lys)]

NM_033215.5(PPP1R3F):c.277G>A (p.Glu93Lys)

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.277G>A (p.Glu93Lys)
HGVS:
  • NC_000023.11:g.49270146G>A
  • NG_021273.1:g.5304G>A
  • NG_021273.2:g.5355G>A
  • NG_202697.1:g.418G>A
  • NM_001184745.2:c.-32+213G>A
  • NM_033215.5:c.277G>AMANE SELECT
  • NP_149992.3:p.Glu93Lys
  • NC_000023.10:g.49126609G>A
  • NM_033215.4:c.277G>A
Protein change:
E93K
Molecular consequence:
  • NM_001184745.2:c.-32+213G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033215.5:c.277G>A - 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
SCV005154559Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 29, 2024) 		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, SCV005154559.1

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

Description

The c.277G>A (p.E93K) alteration is located in exon 1 (coding exon 1) of the PPP1R3F gene. This alteration results from a G to A substitution at nucleotide position 277, causing the glutamic acid (E) at amino acid position 93 to be replaced by a lysine (K). 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: Aug 11, 2024