NM_002739.5:c.449_450delGCinsTT
Variant summary
Our verdict is Likely pathogenic. The variant received 7 ACMG points: 7P and 0B. PM1PM5PP2PP3PP5
The NM_002739.5(PRKCG):c.449_450delGCinsTT(p.Cys150Phe) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C150G) has been classified as Likely pathogenic.
Frequency
Consequence
NM_002739.5 missense
Scores
Clinical Significance
Conservation
Publications
- spinocerebellar ataxia type 14Inheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, Ambry Genetics, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Likely_pathogenic. The variant received 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKCG | NM_002739.5 | c.449_450delGCinsTT | p.Cys150Phe | missense_variant | ENST00000263431.4 | NP_002730.1 | ||
PRKCG | NM_001316329.2 | c.449_450delGCinsTT | p.Cys150Phe | missense_variant | NP_001303258.1 | |||
PRKCG | XM_047439092.1 | c.65_66delGCinsTT | p.Cys22Phe | missense_variant | XP_047295048.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Spinocerebellar ataxia type 14 Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at