rs201768056
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001114753.3(ENG):āc.1762G>Cā(p.Val588Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V588I) has been classified as Likely benign.
Frequency
Consequence
NM_001114753.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.1762G>C | p.Val588Leu | missense_variant | 14/15 | ENST00000373203.9 | |
ENG | NM_000118.4 | c.1762G>C | p.Val588Leu | missense_variant | 14/14 | ||
ENG | NM_001278138.2 | c.1216G>C | p.Val406Leu | missense_variant | 14/15 | ||
LOC102723566 | NR_136302.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203.9 | c.1762G>C | p.Val588Leu | missense_variant | 14/15 | 1 | NM_001114753.3 | P2 | |
ENG | ENST00000344849.4 | c.1762G>C | p.Val588Leu | missense_variant | 14/14 | 1 | A2 | ||
ENG | ENST00000480266.6 | c.1216G>C | p.Val406Leu | missense_variant | 14/15 | 2 | |||
ENST00000439298.5 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1458058Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725036
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at