9-135695135-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001101677.2(SOHLH1):āc.790C>Gā(p.Leu264Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000813 in 1,598,302 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SOHLH1 | NM_001101677.2 | c.790C>G | p.Leu264Val | missense_variant | 6/8 | ENST00000425225.2 | NP_001095147.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SOHLH1 | ENST00000425225.2 | c.790C>G | p.Leu264Val | missense_variant | 6/8 | 5 | NM_001101677.2 | ENSP00000404438.1 | ||
SOHLH1 | ENST00000298466.9 | c.790C>G | p.Leu264Val | missense_variant | 6/7 | 1 | ENSP00000298466.5 | |||
SOHLH1 | ENST00000673731.1 | c.148C>G | p.Leu50Val | missense_variant | 2/5 | ENSP00000501311.1 | ||||
SOHLH1 | ENST00000674066.1 | n.2380C>G | non_coding_transcript_exon_variant | 9/11 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152206Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000932 AC: 2AN: 214578Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 117588
GnomAD4 exome AF: 0.00000553 AC: 8AN: 1445978Hom.: 0 Cov.: 37 AF XY: 0.00000418 AC XY: 3AN XY: 717966
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152324Hom.: 0 Cov.: 34 AF XY: 0.0000268 AC XY: 2AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 14, 2023 | The c.790C>G (p.L264V) alteration is located in exon 6 (coding exon 6) of the SOHLH1 gene. This alteration results from a C to G substitution at nucleotide position 790, causing the leucine (L) at amino acid position 264 to be replaced by a valine (V). 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