6-77463203-A-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000863.3(HTR1B):c.201T>A(p.Asn67Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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 Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HTR1B | NM_000863.3 | c.201T>A | p.Asn67Lys | missense_variant | Exon 1 of 1 | ENST00000369947.5 | NP_000854.1 | |
LOC105377864 | XM_047419659.1 | c.-11256A>T | 5_prime_UTR_variant | Exon 2 of 6 | XP_047275615.1 | |||
LOC105377864 | XM_047419660.1 | c.-3742-11323A>T | intron_variant | Intron 5 of 8 | XP_047275616.1 | |||
LOC105377864 | XM_047419661.1 | c.-3917+85A>T | intron_variant | Intron 1 of 5 | XP_047275617.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 38
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.201T>A (p.N67K) alteration is located in exon 1 (coding exon 1) of the HTR1B gene. This alteration results from a T to A substitution at nucleotide position 201, causing the asparagine (N) at amino acid position 67 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