rs2120273
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000420951.1(ENSG00000290454):n.272+2087T>C 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 0.194 in 151,696 control chromosomes in the GnomAD database, including 2,675 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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000420951.1 | n.272+2087T>C | intron_variant, non_coding_transcript_variant | 5 | ||||||
SLC47A1P1 | ENST00000449666.3 | n.347+2087T>C | intron_variant, non_coding_transcript_variant | ||||||
ENST00000574267.1 | n.27-11396A>G | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000454535.5 | n.129+867T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.194 AC: 29372AN: 151482Hom.: 2667 Cov.: 32
GnomAD4 exome AF: 0.228 AC: 21AN: 92Hom.: 3 AF XY: 0.171 AC XY: 12AN XY: 70
GnomAD4 genome ? AF: 0.194 AC: 29401AN: 151604Hom.: 2672 Cov.: 32 AF XY: 0.191 AC XY: 14186AN XY: 74120
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at