6-77462431-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000863.3(HTR1B):c.973G>A(p.Val325Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,613,834 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000863.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HTR1B | NM_000863.3 | c.973G>A | p.Val325Met | missense_variant | Exon 1 of 1 | ENST00000369947.5 | NP_000854.1 | |
LOC105377864 | XM_047419659.1 | c.-11793C>T | 5_prime_UTR_variant | Exon 1 of 6 | XP_047275615.1 | |||
LOC105377864 | XM_047419660.1 | c.-3742-12095C>T | intron_variant | Intron 5 of 8 | XP_047275616.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151980Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251480Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135916
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461854Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727220
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151980Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74228
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.973G>A (p.V325M) alteration is located in exon 1 (coding exon 1) of the HTR1B gene. This alteration results from a G to A substitution at nucleotide position 973, causing the valine (V) at amino acid position 325 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at