rs7514146
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005337.3(PKP1):c.733C>A(p.Leu245Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L245L) has been classified as Benign.
Frequency
Consequence
NM_001005337.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PKP1 | NM_001005337.3 | c.733C>A | p.Leu245Met | missense_variant | 4/14 | ENST00000367324.8 | |
PKP1 | NM_000299.4 | c.733C>A | p.Leu245Met | missense_variant | 4/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKP1 | ENST00000367324.8 | c.733C>A | p.Leu245Met | missense_variant | 4/14 | 1 | NM_001005337.3 | P1 | |
PKP1 | ENST00000263946.7 | c.733C>A | p.Leu245Met | missense_variant | 4/15 | 5 | |||
PKP1 | ENST00000352845.3 | c.733C>A | p.Leu245Met | missense_variant | 4/14 | 5 | |||
PKP1 | ENST00000475988.1 | n.75C>A | non_coding_transcript_exon_variant | 2/5 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at