rs1008438
Positions:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The variant allele was found at a frequency of 0.429 in 596,576 control chromosomes in the GnomAD database, including 59,283 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as association (no stars).
Frequency
Genomes: 𝑓 0.51 ( 21347 hom., cov: 31)
Exomes 𝑓: 0.40 ( 37936 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.162
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.33).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.736 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.507 AC: 76984AN: 151764Hom.: 21320 Cov.: 31
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GnomAD4 exome AF: 0.402 AC: 178819AN: 444694Hom.: 37936 Cov.: 4 AF XY: 0.401 AC XY: 94639AN XY: 235736
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GnomAD4 genome ? AF: 0.507 AC: 77056AN: 151882Hom.: 21347 Cov.: 31 AF XY: 0.509 AC XY: 37810AN XY: 74226
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ClinVar
Significance: association
Submissions summary: Other:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Chronic obstructive pulmonary disease Other:1
association, no assertion criteria provided | case-control | HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas | Aug 04, 2019 | - - |
Computational 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