10-60196628-GAA-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_020987.5(ANK3):c.1690-5_1690-4del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000134 in 1,258,120 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in Lovd as Benign (no stars).
Frequency
Consequence
NM_020987.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANK3 | NM_020987.5 | c.1690-5_1690-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000280772.7 | |||
ANK3 | NM_001204403.2 | c.1672-5_1672-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
ANK3 | NM_001204404.2 | c.1639-5_1639-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
ANK3 | NM_001320874.2 | c.1690-5_1690-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANK3 | ENST00000280772.7 | c.1690-5_1690-4del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_020987.5 |
Frequencies
GnomAD3 genomes AF: 0.0000376 AC: 5AN: 133090Hom.: 0 Cov.: 28
GnomAD4 exome AF: 0.000146 AC: 164AN: 1125030Hom.: 0 AF XY: 0.000138 AC XY: 78AN XY: 564094
GnomAD4 genome AF: 0.0000376 AC: 5AN: 133090Hom.: 0 Cov.: 28 AF XY: 0.0000470 AC XY: 3AN XY: 63810
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at