chr7-129189165-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005631.5(SMO):āc.14G>Cā(p.Arg5Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000169 in 1,183,914 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R5C) has been classified as Uncertain significance.
Frequency
Consequence
NM_005631.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMO | NM_005631.5 | c.14G>C | p.Arg5Pro | missense_variant | 1/12 | ENST00000249373.8 | |
SMO | XM_047420759.1 | c.-491G>C | 5_prime_UTR_variant | 1/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMO | ENST00000249373.8 | c.14G>C | p.Arg5Pro | missense_variant | 1/12 | 1 | NM_005631.5 | P1 | |
SMO | ENST00000655644.1 | c.14G>C | p.Arg5Pro | missense_variant, NMD_transcript_variant | 1/12 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151658Hom.: 0 Cov.: 32
GnomAD4 exome AF: 9.69e-7 AC: 1AN: 1032256Hom.: 0 Cov.: 19 AF XY: 0.00000205 AC XY: 1AN XY: 488578
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151658Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74068
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.14G>C (p.R5P) alteration is located in exon 1 (coding exon 1) of the SMO gene. This alteration results from a G to C substitution at nucleotide position 14, causing the arginine (R) at amino acid position 5 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at