chr8-23111721-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003841.5(TNFRSF10C):c.62T>A(p.Val21Asp) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000616 in 1,461,684 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003841.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNFRSF10C | NM_003841.5 | c.62T>A | p.Val21Asp | missense_variant, splice_region_variant | 2/5 | ENST00000356864.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFRSF10C | ENST00000356864.4 | c.62T>A | p.Val21Asp | missense_variant, splice_region_variant | 2/5 | 1 | NM_003841.5 | P1 | |
TNFRSF10C | ENST00000517558.1 | c.61-2936T>A | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251116Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135758
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461684Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727146
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at