rs11703684
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001255975.1(PIWIL3):āc.1411G>Cā(p.Val471Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,050 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001255975.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIWIL3 | NM_001255975.1 | c.1411G>C | p.Val471Leu | missense_variant | 12/21 | ENST00000616349.5 | |
PIWIL3 | NM_001008496.3 | c.1411G>C | p.Val471Leu | missense_variant | 12/21 | ||
PIWIL3 | NR_045648.1 | n.2042G>C | non_coding_transcript_exon_variant | 13/22 | |||
PIWIL3 | NR_045649.2 | n.1915G>C | non_coding_transcript_exon_variant | 13/22 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIWIL3 | ENST00000616349.5 | c.1411G>C | p.Val471Leu | missense_variant | 12/21 | 1 | NM_001255975.1 | A2 | |
PIWIL3 | ENST00000332271.9 | c.1411G>C | p.Val471Leu | missense_variant | 12/21 | 1 | P2 | ||
PIWIL3 | ENST00000527701.6 | c.*1383G>C | 3_prime_UTR_variant, NMD_transcript_variant | 13/22 | 1 | ||||
PIWIL3 | ENST00000533313.6 | c.*1337G>C | 3_prime_UTR_variant, NMD_transcript_variant | 13/22 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152050Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152050Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at