rs11167435
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000868.4(HTR2C):c.-79-18851A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.105 in 111,045 control chromosomes in the GnomAD database, including 619 homozygotes. There are 3,248 hemizygotes in GnomAD. 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_000868.4 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HTR2C | NM_000868.4 | c.-79-18851A>T | intron_variant | ENST00000276198.6 | |||
HTR2C | NM_001256760.3 | c.-170-9579A>T | intron_variant | ||||
HTR2C | NM_001256761.3 | c.-79-18851A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HTR2C | ENST00000276198.6 | c.-79-18851A>T | intron_variant | 1 | NM_000868.4 | P1 | |||
HTR2C | ENST00000371950.3 | c.-79-18851A>T | intron_variant | 1 | |||||
HTR2C | ENST00000371951.5 | c.-170-9579A>T | intron_variant | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.105 AC: 11642AN: 111008Hom.: 618 Cov.: 23 AF XY: 0.0978 AC XY: 3248AN XY: 33220
GnomAD4 genome AF: 0.105 AC: 11644AN: 111045Hom.: 619 Cov.: 23 AF XY: 0.0976 AC XY: 3248AN XY: 33271
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at