rs10213471
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000661928.1(ENSG00000287292):n.104+3470A>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 0.845 in 152,280 control chromosomes in the GnomAD database, including 54,480 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000661928.1 | n.104+3470A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000669991.1 | n.168+3470A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.845 AC: 128557AN: 152162Hom.: 54432 Cov.: 34
GnomAD4 genome ? AF: 0.845 AC: 128661AN: 152280Hom.: 54480 Cov.: 34 AF XY: 0.847 AC XY: 63051AN XY: 74454
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at