9-135693688-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001101677.2(SOHLH1):āc.1073C>Gā(p.Pro358Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000317 in 1,579,328 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001101677.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SOHLH1 | NM_001101677.2 | c.1073C>G | p.Pro358Arg | missense_variant | 8/8 | ENST00000425225.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SOHLH1 | ENST00000425225.2 | c.1073C>G | p.Pro358Arg | missense_variant | 8/8 | 5 | NM_001101677.2 | A2 | |
SOHLH1 | ENST00000298466.9 | c.*658C>G | 3_prime_UTR_variant | 7/7 | 1 | P2 | |||
SOHLH1 | ENST00000673731.1 | c.497C>G | p.Pro166Arg | missense_variant | 5/5 | ||||
SOHLH1 | ENST00000674066.1 | n.2663C>G | non_coding_transcript_exon_variant | 11/11 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000532 AC: 1AN: 187998Hom.: 0 AF XY: 0.00000985 AC XY: 1AN XY: 101522
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1427144Hom.: 0 Cov.: 29 AF XY: 0.00000141 AC XY: 1AN XY: 706748
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at