rs5945250
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001162936.4(SMIM9):c.-99-182C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000908 in 110,136 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 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_001162936.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMIM9 | NM_001162936.4 | c.-99-182C>T | intron_variant | ENST00000369529.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMIM9 | ENST00000369529.2 | c.-99-182C>T | intron_variant | 5 | NM_001162936.4 | P1 | |||
SMIM9 | ENST00000478043.1 | n.211-182C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000908 AC: 1AN: 110136Hom.: 0 Cov.: 22 AF XY: 0.0000309 AC XY: 1AN XY: 32354
GnomAD4 genome AF: 0.00000908 AC: 1AN: 110136Hom.: 0 Cov.: 22 AF XY: 0.0000309 AC XY: 1AN XY: 32354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at