17-58206159-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 6P and 8B. PVS1_StrongPM2BP6_Very_Strong
The NM_001321269.2(MKS1):c.1517C>A(p.Ser506*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000328 in 1,461,664 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. S506S) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001321269.2 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000603 AC: 15AN: 248694Hom.: 0 AF XY: 0.0000963 AC XY: 13AN XY: 135042
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461664Hom.: 0 Cov.: 32 AF XY: 0.0000481 AC XY: 35AN XY: 727130
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
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Meckel-Gruber syndrome;C0431399:Familial aplasia of the vermis Benign:1
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Bardet-Biedl syndrome 13;C3714506:Meckel syndrome, type 1;C4310705:Joubert syndrome 28 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at