rs139132974
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052918.5(SORCS1):āc.3352G>Cā(p.Val1118Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_052918.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SORCS1 | ENST00000263054.11 | c.3352G>C | p.Val1118Leu | missense_variant | Exon 25 of 26 | 1 | NM_052918.5 | ENSP00000263054.5 | ||
SORCS1 | ENST00000369698.6 | c.2083G>C | p.Val695Leu | missense_variant | Exon 17 of 19 | 5 | ENSP00000358712.2 | |||
SORCS1 | ENST00000452214.5 | c.394G>C | p.Val132Leu | missense_variant | Exon 4 of 6 | 3 | ENSP00000407769.1 | |||
SORCS1 | ENST00000473866.1 | n.240G>C | non_coding_transcript_exon_variant | Exon 3 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250452Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135402
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461804Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727210
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at