rs1426579889
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000863.3(HTR1B):āc.201T>Cā(p.Asn67Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,894 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.
Frequency
Consequence
NM_000863.3 synonymous
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HTR1B | NM_000863.3 | c.201T>C | p.Asn67Asn | synonymous_variant | Exon 1 of 1 | ENST00000369947.5 | NP_000854.1 | |
LOC105377864 | XM_047419659.1 | c.-11256A>G | 5_prime_UTR_variant | Exon 2 of 6 | XP_047275615.1 | |||
LOC105377864 | XM_047419660.1 | c.-3742-11323A>G | intron_variant | Intron 5 of 8 | XP_047275616.1 | |||
LOC105377864 | XM_047419661.1 | c.-3917+85A>G | intron_variant | Intron 1 of 5 | XP_047275617.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251486Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135918
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461894Hom.: 0 Cov.: 38 AF XY: 0.00 AC XY: 0AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at