6-77462368-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000863.3(HTR1B):āc.1036T>Cā(p.Phe346Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000052 in 1,613,996 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000863.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HTR1B | NM_000863.3 | c.1036T>C | p.Phe346Leu | missense_variant | Exon 1 of 1 | ENST00000369947.5 | NP_000854.1 | |
LOC105377864 | XM_047419659.1 | c.-11856A>G | 5_prime_UTR_variant | Exon 1 of 6 | XP_047275615.1 | |||
LOC105377864 | XM_047419660.1 | c.-3742-12158A>G | intron_variant | Intron 5 of 8 | XP_047275616.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000175 AC: 44AN: 251490Hom.: 0 AF XY: 0.000132 AC XY: 18AN XY: 135920
GnomAD4 exome AF: 0.0000506 AC: 74AN: 1461798Hom.: 0 Cov.: 34 AF XY: 0.0000413 AC XY: 30AN XY: 727198
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1036T>C (p.F346L) alteration is located in exon 1 (coding exon 1) of the HTR1B gene. This alteration results from a T to C substitution at nucleotide position 1036, causing the phenylalanine (F) at amino acid position 346 to be replaced by a leucine (L). 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