rs1176713
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000869.6(HTR3A):āc.1377A>Cā(p.Leu459Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,622 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L459L) has been classified as Likely benign.
Frequency
Consequence
NM_000869.6 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HTR3A | NM_000869.6 | c.1377A>C | p.Leu459Leu | synonymous_variant | Exon 9 of 9 | ENST00000504030.7 | NP_000860.3 | |
HTR3A | NM_213621.4 | c.1473A>C | p.Leu491Leu | synonymous_variant | Exon 8 of 8 | NP_998786.3 | ||
HTR3A | NM_001161772.3 | c.1332A>C | p.Leu444Leu | synonymous_variant | Exon 9 of 9 | NP_001155244.1 | ||
HTR3A | NR_046363.2 | n.1434A>C | non_coding_transcript_exon_variant | Exon 8 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461622Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 727094
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.