chr8-41932232-T-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_006766.5(KAT6A):c.5988A>G(p.Ser1996=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,114 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_006766.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KAT6A | NM_006766.5 | c.5988A>G | p.Ser1996= | synonymous_variant | 17/17 | ENST00000265713.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KAT6A | ENST00000265713.8 | c.5988A>G | p.Ser1996= | synonymous_variant | 17/17 | 1 | NM_006766.5 | A2 | |
KAT6A | ENST00000406337.6 | c.5994A>G | p.Ser1998= | synonymous_variant | 18/18 | 5 | A2 | ||
KAT6A | ENST00000396930.4 | c.5988A>G | p.Ser1996= | synonymous_variant | 18/18 | 5 | A2 | ||
KAT6A | ENST00000649817.1 | c.4671A>G | p.Ser1557= | synonymous_variant | 11/11 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456114Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 723952
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 11, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.