rs6318
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000868.4(HTR2C):c.68C>G(p.Ser23Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 5/6 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000868.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HTR2C | NM_000868.4 | c.68C>G | p.Ser23Cys | missense_variant | 4/6 | ENST00000276198.6 | |
LOC105373313 | XR_001755943.2 | n.574-550G>C | intron_variant, non_coding_transcript_variant | ||||
HTR2C | NM_001256760.3 | c.68C>G | p.Ser23Cys | missense_variant | 5/7 | ||
HTR2C | NM_001256761.3 | c.68C>G | p.Ser23Cys | missense_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HTR2C | ENST00000276198.6 | c.68C>G | p.Ser23Cys | missense_variant | 4/6 | 1 | NM_000868.4 | P1 | |
HTR2C | ENST00000371951.5 | c.68C>G | p.Ser23Cys | missense_variant | 5/7 | 1 | P1 | ||
HTR2C | ENST00000371950.3 | c.68C>G | p.Ser23Cys | missense_variant | 4/6 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.794 AC: 85748AN: 107951Hom.: 24730 Cov.: 20 AF XY: 0.801 AC XY: 24288AN XY: 30335
GnomAD4 exome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.844 AC: 921798AN: 1092460Hom.: 260684 Cov.: 30 AF XY: 0.849 AC XY: 304330AN XY: 358296
GnomAD4 genome ? Data not reliable, filtered out with message: InbreedingCoeff AF: 0.794 AC: 85770AN: 107990Hom.: 24722 Cov.: 20 AF XY: 0.801 AC XY: 24325AN XY: 30384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at