rs4434423
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000637375.1(TTC33):c.221+69218A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.627 in 151,978 control chromosomes in the GnomAD database, including 29,961 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 0.63 ( 29961 hom., cov: 31)
Consequence
TTC33
ENST00000637375.1 intron
ENST00000637375.1 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0360
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 (AMR) allele frequency at 95% confidence interval = 0.66 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC33 | ENST00000636106.1 | c.222-64199A>T | intron_variant | 5 | |||||
TTC33 | ENST00000636863.1 | c.221+69218A>T | intron_variant | 5 | |||||
TTC33 | ENST00000637375.1 | c.221+69218A>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.627 AC: 95177AN: 151860Hom.: 29930 Cov.: 31
GnomAD3 genomes
?
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95177
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151860
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31
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.627 AC: 95264AN: 151978Hom.: 29961 Cov.: 31 AF XY: 0.625 AC XY: 46392AN XY: 74278
GnomAD4 genome
?
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AC:
95264
AN:
151978
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31
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46392
AN XY:
74278
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Asia WGS
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1900
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at