15-89665760-C-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_002666.5(PLIN1):c.1392G>T(p.Ala464Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00326 in 1,273,274 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_002666.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLIN1 | ENST00000300055.10 | c.1392G>T | p.Ala464Ala | synonymous_variant | Exon 9 of 9 | 1 | NM_002666.5 | ENSP00000300055.5 | ||
PLIN1 | ENST00000430628.2 | c.1392G>T | p.Ala464Ala | synonymous_variant | Exon 9 of 9 | 5 | ENSP00000402167.2 | |||
PLIN1 | ENST00000560330.1 | c.124-819G>T | intron_variant | Intron 2 of 2 | 5 | ENSP00000453426.1 |
Frequencies
GnomAD3 genomes AF: 0.00259 AC: 391AN: 150732Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0117 AC: 56AN: 4788Hom.: 0 AF XY: 0.0110 AC XY: 36AN XY: 3264
GnomAD4 exome AF: 0.00335 AC: 3756AN: 1122434Hom.: 7 Cov.: 31 AF XY: 0.00345 AC XY: 1864AN XY: 540570
GnomAD4 genome AF: 0.00259 AC: 391AN: 150840Hom.: 1 Cov.: 32 AF XY: 0.00279 AC XY: 206AN XY: 73712
ClinVar
Submissions by phenotype
not provided Benign:2
PLIN1: BP4, BP7 -
- -
PLIN1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at