chr8-85463769-A-AGGAGCCCC
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NR_121630.1(CA3-AS1):n.334+812_334+813insGGGGCTCC 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 0.502 in 231,744 control chromosomes in the GnomAD database, including 33,341 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.57 ( 24746 hom., cov: 0)
Exomes 𝑓: 0.38 ( 8595 hom. )
Consequence
CA3-AS1
NR_121630.1 intron, non_coding_transcript
NR_121630.1 intron, non_coding_transcript
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.00800
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
Variant 8-85463769-A-AGGAGCCCC is Benign according to our data. Variant chr8-85463769-A-AGGAGCCCC is described in ClinVar as [Benign]. Clinvar id is 1225462.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.626 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA3-AS1 | NR_121630.1 | n.334+812_334+813insGGGGCTCC | intron_variant, non_coding_transcript_variant | |||||
CA3-AS1 | NR_121631.1 | n.106+458_106+459insGGGGCTCC | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CA3-AS1 | ENST00000521761.6 | n.334+812_334+813insGGGGCTCC | intron_variant, non_coding_transcript_variant | 4 | ||||||
CA3-AS1 | ENST00000654303.1 | n.32_33insGGGGCTCC | non_coding_transcript_exon_variant | 1/3 | ||||||
CA3-AS1 | ENST00000517697.6 | n.193+458_193+459insGGGGCTCC | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.574 AC: 84047AN: 146442Hom.: 24730 Cov.: 0
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GnomAD4 exome AF: 0.380 AC: 32354AN: 85216Hom.: 8595 AF XY: 0.367 AC XY: 17148AN XY: 46706
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GnomAD4 genome AF: 0.574 AC: 84090AN: 146528Hom.: 24746 Cov.: 0 AF XY: 0.576 AC XY: 41147AN XY: 71450
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 11, 2020 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at