rs377696913
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_020987.5(ANK3):c.1295C>T(p.Ser432Leu) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000807 in 1,610,510 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/2 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. S432S) has been classified as Uncertain significance.
Frequency
Consequence
NM_020987.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANK3 | NM_020987.5 | c.1295C>T | p.Ser432Leu | missense_variant, splice_region_variant | 12/44 | ENST00000280772.7 | |
ANK3 | NM_001204404.2 | c.1244C>T | p.Ser415Leu | missense_variant, splice_region_variant | 12/44 | ||
ANK3 | NM_001320874.2 | c.1295C>T | p.Ser432Leu | missense_variant, splice_region_variant | 12/43 | ||
ANK3 | NM_001204403.2 | c.1277C>T | p.Ser426Leu | missense_variant, splice_region_variant | 13/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANK3 | ENST00000280772.7 | c.1295C>T | p.Ser432Leu | missense_variant, splice_region_variant | 12/44 | 1 | NM_020987.5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152082Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249550Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134794
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1458428Hom.: 0 Cov.: 29 AF XY: 0.00000689 AC XY: 5AN XY: 725628
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152082Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74288
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Aug 04, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at