rs4597955
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001742935.2(LOC107986462):n.344-1210G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.702 in 152,184 control chromosomes in the GnomAD database, including 39,339 homozygotes. 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
XR_001742935.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC107986462 | XR_001742935.2 | n.344-1210G>A | intron_variant, non_coding_transcript_variant | |||||
HTR4 | NM_001040169.2 | c.1077-16438C>T | intron_variant | NP_001035259.1 | ||||
HTR4 | NM_199453.3 | c.1077-1785C>T | intron_variant | NP_955525.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HTR4 | ENST00000521530.6 | c.1077-16438C>T | intron_variant | 1 | ENSP00000428320 | P1 | ||||
HTR4 | ENST00000521735.5 | c.1077-1785C>T | intron_variant | 1 | ENSP00000430979 | |||||
HTR4 | ENST00000522588.5 | c.1077-1785C>T | intron_variant, NMD_transcript_variant | 1 | ENSP00000430874 |
Frequencies
GnomAD3 genomes AF: 0.702 AC: 106720AN: 152066Hom.: 39271 Cov.: 33
GnomAD4 genome AF: 0.702 AC: 106847AN: 152184Hom.: 39339 Cov.: 33 AF XY: 0.703 AC XY: 52287AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at