rs6572915
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000648066.1(ENSG00000237356):n.335-99478A>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 0.343 in 151,998 control chromosomes in the GnomAD database, including 9,020 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 |
---|---|---|---|---|---|---|---|
LOC105370504 | XR_943876.3 | n.29701-99478A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105370504 | XR_001750974.1 | n.3896-99478A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105370504 | XR_001750975.3 | n.29701-99478A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000648066.1 | n.335-99478A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.343 AC: 52035AN: 151880Hom.: 8997 Cov.: 31
GnomAD4 genome ? AF: 0.343 AC: 52100AN: 151998Hom.: 9020 Cov.: 31 AF XY: 0.340 AC XY: 25243AN XY: 74316
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at