2-217347722-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_026597.2(DIRC3):n.2291-19570G>A 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 0.000276 in 152,260 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NR_026597.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DIRC3 | NR_026597.2 | n.2291-19570G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DIRC3 | ENST00000486365.5 | n.2291-19570G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
DIRC3 | ENST00000474063.5 | n.1459-19570G>A | intron_variant, non_coding_transcript_variant | 2 | |||||
DIRC3 | ENST00000663562.1 | n.2378-19570G>A | intron_variant, non_coding_transcript_variant | ||||||
DIRC3 | ENST00000676082.1 | n.1041-19570G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000263 AC: 40AN: 152142Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.000276 AC: 42AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at