rs6517368
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000457669.1(ENSG00000231324):n.243+1146A>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 0.372 in 151,800 control chromosomes in the GnomAD database, including 11,935 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 |
---|---|---|---|---|---|---|---|
LOC105369308 | XR_007067857.1 | n.6299+1146A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369308 | XR_001755027.2 | n.1102-2075A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105369308 | XR_007067856.1 | n.6303+1146A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000457669.1 | n.243+1146A>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.372 AC: 56368AN: 151682Hom.: 11907 Cov.: 31
GnomAD4 genome ? AF: 0.372 AC: 56448AN: 151800Hom.: 11935 Cov.: 31 AF XY: 0.369 AC XY: 27379AN XY: 74158
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at