rs1176744
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_006028.5(HTR3B):āc.386A>Cā(p.Tyr129Ser) variant causes a missense change. The variant allele was found at a frequency of 0.326 in 1,609,780 control chromosomes in the GnomAD database, including 87,633 homozygotes. 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 Lovd as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_006028.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HTR3B | NM_006028.5 | c.386A>C | p.Tyr129Ser | missense_variant | 5/9 | ENST00000260191.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HTR3B | ENST00000260191.8 | c.386A>C | p.Tyr129Ser | missense_variant | 5/9 | 1 | NM_006028.5 | P2 | |
HTR3B | ENST00000537778.5 | c.353A>C | p.Tyr118Ser | missense_variant | 4/8 | 1 | A2 | ||
HTR3B | ENST00000543092.1 | c.173A>C | p.Tyr58Ser | missense_variant | 3/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.357 AC: 54166AN: 151850Hom.: 9929 Cov.: 32
GnomAD3 exomes AF: 0.333 AC: 83424AN: 250544Hom.: 14563 AF XY: 0.335 AC XY: 45292AN XY: 135364
GnomAD4 exome AF: 0.323 AC: 471301AN: 1457812Hom.: 77679 Cov.: 32 AF XY: 0.326 AC XY: 236649AN XY: 725386
GnomAD4 genome ? AF: 0.357 AC: 54235AN: 151968Hom.: 9954 Cov.: 32 AF XY: 0.357 AC XY: 26521AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at