rs4781213
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_032167.5(SNX29):c.1899+11281C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.87 in 152,270 control chromosomes in the GnomAD database, including 57,778 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 0.87 ( 57778 hom., cov: 34)
Failed GnomAD Quality Control
Consequence
SNX29
NM_032167.5 intron
NM_032167.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0420
Genes affected
SNX29 (HGNC:30542): (sorting nexin 29) Predicted to enable phosphatidylinositol binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.78).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.899 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNX29 | NM_032167.5 | c.1899+11281C>A | intron_variant | ENST00000566228.6 | NP_115543.3 | |||
LOC101927227 | XR_243354.4 | n.71-91G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNX29 | ENST00000566228.6 | c.1899+11281C>A | intron_variant | 5 | NM_032167.5 | ENSP00000456480 | P1 | |||
SNX29 | ENST00000564791.5 | c.366+11281C>A | intron_variant | 1 | ENSP00000457017 | |||||
ENST00000569490.1 | n.52-91G>T | intron_variant, non_coding_transcript_variant | 3 | |||||||
SNX29 | ENST00000562510.1 | c.27+11281C>A | intron_variant | 3 | ENSP00000455327 |
Frequencies
GnomAD3 genomes AF: 0.870 AC: 132297AN: 152152Hom.: 57722 Cov.: 34
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.870 AC: 132411AN: 152270Hom.: 57778 Cov.: 34 AF XY: 0.864 AC XY: 64300AN XY: 74438
GnomAD4 genome
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34
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64300
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74438
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2780
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
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