chr10-77637591-C-CGCCGCCGCCGCCGCCGCTGCT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001161352.2(KCNMA1):c.51_52insAGCAGCGGCGGCGGCGGCGGC(p.Ser11_Gly17dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000984 in 1,524,852 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. G17G) has been classified as Likely benign.
Frequency
Consequence
NM_001161352.2 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCNMA1 | NM_001161352.2 | c.51_52insAGCAGCGGCGGCGGCGGCGGC | p.Ser11_Gly17dup | inframe_insertion | 1/28 | ENST00000286628.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCNMA1 | ENST00000286628.14 | c.51_52insAGCAGCGGCGGCGGCGGCGGC | p.Ser11_Gly17dup | inframe_insertion | 1/28 | 1 | NM_001161352.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151640Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000102 AC: 14AN: 1373212Hom.: 0 Cov.: 33 AF XY: 0.00000886 AC XY: 6AN XY: 677094
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151640Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74036
ClinVar
Submissions by phenotype
Generalized epilepsy-paroxysmal dyskinesia syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 22, 2022 | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1485982). This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.31_51dup, results in the insertion of 7 amino acid(s) of the KCNMA1 protein (p.Ser11_Gly17dup), but otherwise preserves the integrity of the reading frame. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at