7-155803719-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000193.4(SHH):āc.570G>Cā(p.Ser190=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000692 in 1,444,770 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S190S) has been classified as Likely benign.
Frequency
Consequence
NM_000193.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SHH | NM_000193.4 | c.570G>C | p.Ser190= | synonymous_variant | 3/3 | ENST00000297261.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SHH | ENST00000297261.7 | c.570G>C | p.Ser190= | synonymous_variant | 3/3 | 1 | NM_000193.4 | P1 | |
SHH | ENST00000430104.5 | c.301+2577G>C | intron_variant | 1 | |||||
SHH | ENST00000435425.1 | c.301+2577G>C | intron_variant, NMD_transcript_variant | 1 | |||||
SHH | ENST00000441114.5 | c.301+2577G>C | intron_variant, NMD_transcript_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000441 AC: 1AN: 226548Hom.: 0 AF XY: 0.00000795 AC XY: 1AN XY: 125708
GnomAD4 exome AF: 6.92e-7 AC: 1AN: 1444770Hom.: 0 Cov.: 34 AF XY: 0.00000139 AC XY: 1AN XY: 719202
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at