2-236190767-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000415226.1(GBX2-AS1):n.223+23098A>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 0.102 in 152,208 control chromosomes in the GnomAD database, including 922 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
Consequence
ENST00000415226.1 intron, non_coding_transcript
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GBX2-AS1 | ENST00000415226.1 | n.223+23098A>G | intron_variant, non_coding_transcript_variant | 4 | |||||
GBX2-AS1 | ENST00000483218.1 | n.206-22896A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
GBX2-AS1 | ENST00000686834.1 | n.228+23098A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.102 AC: 15564AN: 152090Hom.: 915 Cov.: 32
GnomAD4 genome AF: 0.102 AC: 15597AN: 152208Hom.: 922 Cov.: 32 AF XY: 0.103 AC XY: 7669AN XY: 74438
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at