19-4511718-T-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001367868.2(PLIN4):c.2242A>T(p.Ile748Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I748V) has been classified as Benign.
Frequency
Consequence
NM_001367868.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLIN4 | NM_001367868.2 | c.2242A>T | p.Ile748Phe | missense_variant | 5/8 | ENST00000301286.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLIN4 | ENST00000301286.5 | c.2242A>T | p.Ile748Phe | missense_variant | 5/8 | 5 | NM_001367868.2 | P1 | |
PLIN4 | ENST00000633942.1 | c.2245A>T | p.Ile749Phe | missense_variant | 5/8 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000545 AC: 4AN: 73386Hom.: 1 Cov.: 10
GnomAD3 exomes AF: 0.0000359 AC: 8AN: 222694Hom.: 1 AF XY: 0.0000327 AC XY: 4AN XY: 122284
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000222 AC: 28AN: 1262718Hom.: 4 Cov.: 70 AF XY: 0.0000255 AC XY: 16AN XY: 626302
GnomAD4 genome AF: 0.0000545 AC: 4AN: 73444Hom.: 1 Cov.: 10 AF XY: 0.000113 AC XY: 4AN XY: 35392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at