chr1-173041671-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005092.4(TNFSF18):c.230C>T(p.Pro77Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000195 in 1,612,528 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005092.4 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 |
---|---|---|---|---|---|---|---|
TNFSF18 | NM_005092.4 | c.230C>T | p.Pro77Leu | missense_variant | 3/3 | ENST00000404377.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFSF18 | ENST00000404377.5 | c.230C>T | p.Pro77Leu | missense_variant | 3/3 | 1 | NM_005092.4 | P1 | |
ENST00000432694.2 | n.665+18098G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000112 AC: 28AN: 249244Hom.: 0 AF XY: 0.0000816 AC XY: 11AN XY: 134884
GnomAD4 exome AF: 0.000203 AC: 297AN: 1460396Hom.: 0 Cov.: 31 AF XY: 0.000218 AC XY: 158AN XY: 726380
GnomAD4 genome AF: 0.000118 AC: 18AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at