X-154831137-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001162936.4(SMIM9):c.-99-182C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.394 in 110,130 control chromosomes in the GnomAD database, including 8,177 homozygotes. There are 12,239 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 Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMIM9 | NM_001162936.4 | c.-99-182C>A | intron_variant | ENST00000369529.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMIM9 | ENST00000369529.2 | c.-99-182C>A | intron_variant | 5 | NM_001162936.4 | P1 | |||
SMIM9 | ENST00000478043.1 | n.211-182C>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.394 AC: 43361AN: 110079Hom.: 8170 Cov.: 22 AF XY: 0.377 AC XY: 12198AN XY: 32327
GnomAD4 genome ? AF: 0.394 AC: 43409AN: 110130Hom.: 8177 Cov.: 22 AF XY: 0.378 AC XY: 12239AN XY: 32388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at