rs140837
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The ENST00000665760.1(ENSG00000228793):n.715+10689_715+10690del variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.253 in 151,904 control chromosomes in the GnomAD database, including 5,410 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.25 ( 5410 hom., cov: 24)
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.827
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.464 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC100507336 | XR_001743929.2 | n.715+10689_715+10690del | intron_variant, non_coding_transcript_variant | ||||
LOC100507336 | XR_926401.3 | n.715+10689_715+10690del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000665760.1 | n.715+10689_715+10690del | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.253 AC: 38437AN: 151786Hom.: 5409 Cov.: 24
GnomAD3 genomes
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24
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.253 AC: 38461AN: 151904Hom.: 5410 Cov.: 24 AF XY: 0.254 AC XY: 18890AN XY: 74256
GnomAD4 genome
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38461
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18890
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74256
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Asia WGS
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944
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3478
ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at