rs2834036
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000454622.2(ENSG00000227757):n.202-57696A>G 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 0.444 in 151,872 control chromosomes in the GnomAD database, including 16,991 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
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000454622.2 | n.202-57696A>G | intron_variant, non_coding_transcript_variant | 2 | ||||||
C21orf62-AS1 | ENST00000700822.1 | n.487-47559T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.444 AC: 67338AN: 151750Hom.: 16965 Cov.: 31
GnomAD4 genome AF: 0.444 AC: 67403AN: 151872Hom.: 16991 Cov.: 31 AF XY: 0.435 AC XY: 32299AN XY: 74224
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at