rs2473116
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000649715.3(ENSG00000285884):n.302+2888G>A 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 0.274 in 151,990 control chromosomes in the GnomAD database, including 6,934 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105378268 | XR_007062125.1 | n.579+2178G>A | intron_variant, non_coding_transcript_variant | |||||
LOC105378268 | XR_007062124.1 | n.537+2600G>A | intron_variant, non_coding_transcript_variant | |||||
LOC105378268 | XR_945898.3 | n.249+2888G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENST00000649715.3 | n.302+2888G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.274 AC: 41596AN: 151872Hom.: 6933 Cov.: 32
GnomAD4 genome AF: 0.274 AC: 41592AN: 151990Hom.: 6934 Cov.: 32 AF XY: 0.271 AC XY: 20134AN XY: 74264
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at