rs7289126
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_012264.5(TMEM184B):c.359-966G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.579 in 152,074 control chromosomes in the GnomAD database, including 27,381 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 0.58 ( 27377 hom., cov: 31)
Exomes 𝑓: 0.59 ( 4 hom. )
Consequence
TMEM184B
NM_012264.5 intron
NM_012264.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.150
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=-0.89).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.814 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM184B | NM_012264.5 | c.359-966G>T | intron_variant | ENST00000361906.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM184B | ENST00000361906.8 | c.359-966G>T | intron_variant | 1 | NM_012264.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.578 AC: 87881AN: 151934Hom.: 27310 Cov.: 31
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GnomAD4 exome AF: 0.591 AC: 13AN: 22Hom.: 4 AF XY: 0.500 AC XY: 6AN XY: 12
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GnomAD4 genome ? AF: 0.579 AC: 88015AN: 152052Hom.: 27377 Cov.: 31 AF XY: 0.580 AC XY: 43069AN XY: 74304
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at