rs562106
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000668456.1(ENSG00000287578):n.105+44013T>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 0.141 in 151,558 control chromosomes in the GnomAD database, including 1,722 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 |
---|---|---|---|---|---|---|---|
LOC107986626 | XR_001744263.2 | n.147+44013T>G | intron_variant, non_coding_transcript_variant | ||||
LOC107986626 | XR_001744264.2 | n.147+44013T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000668456.1 | n.105+44013T>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000658251.1 | n.75+43653T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.141 AC: 21359AN: 151446Hom.: 1718 Cov.: 30
GnomAD4 genome AF: 0.141 AC: 21388AN: 151558Hom.: 1722 Cov.: 30 AF XY: 0.140 AC XY: 10388AN XY: 74082
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at