11-78064119-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003251.4(THRSP):c.238T>A(p.Trp80Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000119 in 1,610,828 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_003251.4 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 |
---|---|---|---|---|---|---|---|
THRSP | NM_003251.4 | c.238T>A | p.Trp80Arg | missense_variant | 1/2 | ENST00000281030.2 | |
NDUFC2-KCTD14 | NM_001203262.2 | c.166+15460A>T | intron_variant | ||||
NDUFC2-KCTD14 | NM_001203260.2 | c.310+8879A>T | intron_variant | ||||
NDUFC2-KCTD14 | NM_001203261.2 | c.310+8879A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
THRSP | ENST00000281030.2 | c.238T>A | p.Trp80Arg | missense_variant | 1/2 | 1 | NM_003251.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000537 AC: 8AN: 148956Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251096Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135724
GnomAD4 exome AF: 0.000125 AC: 183AN: 1461872Hom.: 0 Cov.: 31 AF XY: 0.000136 AC XY: 99AN XY: 727238
GnomAD4 genome AF: 0.0000537 AC: 8AN: 148956Hom.: 0 Cov.: 32 AF XY: 0.0000413 AC XY: 3AN XY: 72556
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at