6-36270545-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001374623.1(PNPLA1):c.86C>T(p.Ala29Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,551,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A29A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001374623.1 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 |
---|---|---|---|---|---|---|---|
PNPLA1 | NM_001374623.1 | c.86C>T | p.Ala29Val | missense_variant | 1/9 | ENST00000636260.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PNPLA1 | ENST00000636260.2 | c.86C>T | p.Ala29Val | missense_variant | 1/9 | 5 | NM_001374623.1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 8AN: 154630Hom.: 0 AF XY: 0.0000608 AC XY: 5AN XY: 82198
GnomAD4 exome AF: 0.0000264 AC: 37AN: 1399246Hom.: 0 Cov.: 32 AF XY: 0.0000304 AC XY: 21AN XY: 690142
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152352Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74506
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 07, 2024 | The c.86C>T (p.A29V) alteration is located in exon 1 (coding exon 1) of the PNPLA1 gene. This alteration results from a C to T substitution at nucleotide position 86, causing the alanine (A) at amino acid position 29 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at