rs2172633
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000526616.1(ENSG00000254983):n.268+1218G>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 0.412 in 151,920 control chromosomes in the GnomAD database, including 13,916 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 |
---|---|---|---|---|---|---|---|
MICAL2 | NM_001393937.1 | c.5212+10161G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000526616.1 | n.268+1218G>A | intron_variant, non_coding_transcript_variant | 3 | ||||||
MICAL2 | ENST00000646065.1 | c.5212+10161G>A | intron_variant | P1 | |||||
MICAL2 | ENST00000643523.1 | n.1717+10161G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.412 AC: 62555AN: 151800Hom.: 13903 Cov.: 31
GnomAD4 genome AF: 0.412 AC: 62589AN: 151920Hom.: 13916 Cov.: 31 AF XY: 0.412 AC XY: 30576AN XY: 74248
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at