rs150678405
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000420.3(KEL):c.1600G>T(p.Val534Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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_000420.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.1600G>T | p.Val534Leu | missense_variant | Exon 15 of 19 | ENST00000355265.7 | NP_000411.1 | |
KEL | XM_005249993.2 | c.1636G>T | p.Val546Leu | missense_variant | Exon 15 of 19 | XP_005250050.1 | ||
KEL | XM_047420357.1 | c.1489G>T | p.Val497Leu | missense_variant | Exon 14 of 18 | XP_047276313.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KEL | ENST00000355265.7 | c.1600G>T | p.Val534Leu | missense_variant | Exon 15 of 19 | 1 | NM_000420.3 | ENSP00000347409.2 | ||
KEL | ENST00000465697.1 | n.461G>T | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 | |||||
KEL | ENST00000470850.1 | n.65G>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at