chr10-116609094-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_006229.4(PNLIPRP1):āc.1382T>Cā(p.Leu461Pro) variant causes a missense change. The variant allele was found at a frequency of 0.18 in 1,611,582 control chromosomes in the GnomAD database, including 27,572 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_006229.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PNLIPRP1 | NM_006229.4 | c.1382T>C | p.Leu461Pro | missense_variant | Exon 13 of 13 | ENST00000358834.9 | NP_006220.1 | |
PNLIPRP1 | NM_001303135.1 | c.1382T>C | p.Leu461Pro | missense_variant | Exon 13 of 13 | NP_001290064.1 | ||
LOC124902510 | XR_007062299.1 | n.483+171A>G | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.148 AC: 22526AN: 152140Hom.: 2062 Cov.: 33
GnomAD3 exomes AF: 0.178 AC: 44646AN: 250284Hom.: 4366 AF XY: 0.176 AC XY: 23848AN XY: 135346
GnomAD4 exome AF: 0.183 AC: 267030AN: 1459324Hom.: 25504 Cov.: 30 AF XY: 0.181 AC XY: 131716AN XY: 726108
GnomAD4 genome AF: 0.148 AC: 22540AN: 152258Hom.: 2068 Cov.: 33 AF XY: 0.151 AC XY: 11213AN XY: 74444
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at