rs199684837
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_017777.4(MKS1):c.468C>T(p.Val156Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000716 in 1,606,748 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_017777.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 152082Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000736 AC: 18AN: 244472Hom.: 0 AF XY: 0.0000827 AC XY: 11AN XY: 133068
GnomAD4 exome AF: 0.0000722 AC: 105AN: 1454666Hom.: 0 Cov.: 30 AF XY: 0.0000732 AC XY: 53AN XY: 723918
GnomAD4 genome AF: 0.0000658 AC: 10AN: 152082Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74292
ClinVar
Submissions by phenotype
not provided Uncertain:1
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not specified Benign:1
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Meckel-Gruber syndrome;C0431399:Familial aplasia of the vermis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at