rs12624935
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000435844.3(SMIM26):c.-67A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.121 in 700,144 control chromosomes in the GnomAD database, including 5,674 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
Genomes: 𝑓 0.13 ( 1303 hom., cov: 33)
Exomes 𝑓: 0.12 ( 4371 hom. )
Consequence
SMIM26
ENST00000435844.3 5_prime_UTR
ENST00000435844.3 5_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.39
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.178 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMIM26 | NM_001348957.2 | upstream_gene_variant | ENST00000411646.2 | ||||
SMIM26 | NM_001348958.2 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMIM26 | ENST00000435844.3 | c.-67A>G | 5_prime_UTR_variant | 1/2 | 1 | A2 | |||
SMIM26 | ENST00000411646.2 | upstream_gene_variant | 1 | NM_001348957.2 | P4 | ||||
SMIM26 | ENST00000608034.1 | upstream_gene_variant | 3 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.125 AC: 19063AN: 152100Hom.: 1304 Cov.: 33
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GnomAD4 exome AF: 0.120 AC: 65547AN: 547926Hom.: 4371 Cov.: 0 AF XY: 0.114 AC XY: 33785AN XY: 296378
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GnomAD4 genome ? AF: 0.125 AC: 19065AN: 152218Hom.: 1303 Cov.: 33 AF XY: 0.126 AC XY: 9377AN XY: 74436
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at