2-231108575-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000867.5(HTR2B):c.1388C>A(p.Thr463Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,568 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000867.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HTR2B | ENST00000258400.4 | c.1388C>A | p.Thr463Lys | missense_variant | Exon 4 of 4 | 1 | NM_000867.5 | ENSP00000258400.3 | ||
PSMD1 | ENST00000308696.11 | c.1883+21394G>T | intron_variant | Intron 16 of 24 | 1 | NM_002807.4 | ENSP00000309474.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250774Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135534
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461568Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727098
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1388C>A (p.T463K) alteration is located in exon 4 (coding exon 3) of the HTR2B gene. This alteration results from a C to A substitution at nucleotide position 1388, causing the threonine (T) at amino acid position 463 to be replaced by a lysine (K). 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