chr16-20736891-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBS1_Supporting
The NM_017736.5(THUMPD1):c.1051G>T(p.Asp351Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,748 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017736.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
THUMPD1 | NM_017736.5 | c.1051G>T | p.Asp351Tyr | missense_variant | 4/4 | ENST00000396083.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
THUMPD1 | ENST00000396083.7 | c.1051G>T | p.Asp351Tyr | missense_variant | 4/4 | 1 | NM_017736.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251114Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135736
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461426Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 726952
GnomAD4 genome AF: 0.000118 AC: 18AN: 152322Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74480
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at