rs2975033
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000647952.1(ENSG00000290870):n.2156-1998C>T 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 0.257 in 151,418 control chromosomes in the GnomAD database, including 5,347 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 |
---|---|---|---|---|---|---|---|
LOC105375010 | XR_926681.2 | n.42-1998C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375010 | XR_926680.3 | n.42-1998C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375010 | XR_926682.3 | n.42-1998C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000647952.1 | n.2156-1998C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.257 AC: 38917AN: 151296Hom.: 5345 Cov.: 32
GnomAD4 genome ? AF: 0.257 AC: 38926AN: 151418Hom.: 5347 Cov.: 32 AF XY: 0.256 AC XY: 18957AN XY: 74052
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at