rs6743085
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_003937.3(KYNU):c.585G>A(p.Gly195=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.001 in 1,613,132 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_003937.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KYNU | NM_003937.3 | c.585G>A | p.Gly195= | splice_region_variant, synonymous_variant | 8/14 | ENST00000264170.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KYNU | ENST00000264170.9 | c.585G>A | p.Gly195= | splice_region_variant, synonymous_variant | 8/14 | 1 | NM_003937.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00535 AC: 813AN: 151992Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00140 AC: 352AN: 250950Hom.: 2 AF XY: 0.000907 AC XY: 123AN XY: 135622
GnomAD4 exome AF: 0.000544 AC: 795AN: 1461022Hom.: 9 Cov.: 30 AF XY: 0.000455 AC XY: 331AN XY: 726850
GnomAD4 genome ? AF: 0.00538 AC: 818AN: 152110Hom.: 6 Cov.: 32 AF XY: 0.00500 AC XY: 372AN XY: 74364
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at