rs773151547
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_003036.4(SKI):c.1890C>A(p.Ala630Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000752 in 1,595,068 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 (★★). Synonymous variant affecting the same amino acid position (i.e. A630A) has been classified as Likely benign.
Frequency
Consequence
NM_003036.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000470 AC: 1AN: 212590Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 115578
GnomAD4 exome AF: 0.00000624 AC: 9AN: 1442824Hom.: 0 Cov.: 32 AF XY: 0.00000279 AC XY: 2AN XY: 715860
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74386
ClinVar
Submissions by phenotype
not provided Benign:1
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Shprintzen-Goldberg syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at