rs1722779
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001005337.3(PKP1):c.918C>A(p.Ala306=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A306A) has been classified as Benign.
Frequency
Consequence
NM_001005337.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PKP1 | NM_001005337.3 | c.918C>A | p.Ala306= | synonymous_variant | 5/14 | ENST00000367324.8 | |
PKP1 | NM_000299.4 | c.918C>A | p.Ala306= | synonymous_variant | 5/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PKP1 | ENST00000367324.8 | c.918C>A | p.Ala306= | synonymous_variant | 5/14 | 1 | NM_001005337.3 | P1 | |
PKP1 | ENST00000263946.7 | c.918C>A | p.Ala306= | synonymous_variant | 5/15 | 5 | |||
PKP1 | ENST00000352845.3 | c.918C>A | p.Ala306= | synonymous_variant | 5/14 | 5 | |||
PKP1 | ENST00000475988.1 | n.260C>A | non_coding_transcript_exon_variant | 3/5 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 36
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at