rs1064792893
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_006741.4(PPP1R1A):c.372_373delinsCA(p.Glu124_Ser125delinsAspThr) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Consequence
PPP1R1A
NM_006741.4 missense
NM_006741.4 missense
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.36
Genes affected
PPP1R1A (HGNC:9286): (protein phosphatase 1 regulatory inhibitor subunit 1A) Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP1R1A | NM_006741.4 | c.372_373delinsCA | p.Glu124_Ser125delinsAspThr | missense_variant | 5/7 | ENST00000257905.13 | |
PPP1R1A | XM_005268995.5 | c.247+725_247+726delinsCA | intron_variant | ||||
PPP1R1A | XM_006719471.5 | c.184-957_184-956delinsCA | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R1A | ENST00000257905.13 | c.372_373delinsCA | p.Glu124_Ser125delinsAspThr | missense_variant | 5/7 | 1 | NM_006741.4 | P1 | |
PPP1R1A | ENST00000547431.5 | c.184-957_184-956delinsCA | intron_variant | 5 | |||||
PPP1R1A | ENST00000553113.5 | c.159+725_159+726delinsCA | intron_variant | 3 | |||||
PPP1R1A | ENST00000547826.2 | c.*113_*114delinsCA | 3_prime_UTR_variant, NMD_transcript_variant | 4/6 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Rosette-forming glioneuronal tumor Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Donald Williams Parsons Laboratory, Baylor College of Medicine | - | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at