12-118403417-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_022491.3(SUDS3):c.703C>G(p.Pro235Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,902 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 Uncertain significance (★).
Frequency
Consequence
NM_022491.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SUDS3 | ENST00000543473.2 | c.703C>G | p.Pro235Ala | missense_variant | Exon 10 of 12 | 1 | NM_022491.3 | ENSP00000443988.1 | ||
SUDS3 | ENST00000541280.1 | n.422C>G | non_coding_transcript_exon_variant | Exon 2 of 4 | 5 | |||||
SUDS3 | ENST00000541591.5 | n.55C>G | non_coding_transcript_exon_variant | Exon 2 of 4 | 3 | |||||
SUDS3 | ENST00000360286.2 | n.-84C>G | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247876Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134446
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460902Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726616
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.703C>G (p.P235A) alteration is located in exon 10 (coding exon 10) of the SUDS3 gene. This alteration results from a C to G substitution at nucleotide position 703, causing the proline (P) at amino acid position 235 to be replaced by an alanine (A). 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