rs201579932
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 8P and 5B. PVS1_StrongPP3_StrongBS1BS2_Supporting
The NM_002666.5(PLIN1):c.964-1G>C variant causes a splice acceptor change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,612,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002666.5 splice_acceptor
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLIN1 | NM_002666.5 | c.964-1G>C | splice_acceptor_variant | ENST00000300055.10 | |||
PLIN1 | NM_001145311.2 | c.964-1G>C | splice_acceptor_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLIN1 | ENST00000300055.10 | c.964-1G>C | splice_acceptor_variant | 1 | NM_002666.5 | P1 | |||
PLIN1 | ENST00000430628.2 | c.964-1G>C | splice_acceptor_variant | 5 | P1 | ||||
PLIN1 | ENST00000560330.1 | c.40-1G>C | splice_acceptor_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000328 AC: 5AN: 152212Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000562 AC: 14AN: 248966Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134898
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1460656Hom.: 0 Cov.: 36 AF XY: 0.00000826 AC XY: 6AN XY: 726662
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152330Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at