rs1953071
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014978.3(SORCS3):c.2009+9258T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000158 in 152,094 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014978.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SORCS3 | NM_014978.3 | c.2009+9258T>A | intron_variant | ENST00000369701.8 | |||
SORCS3 | XM_011539542.2 | c.941+9258T>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORCS3 | ENST00000369701.8 | c.2009+9258T>A | intron_variant | 1 | NM_014978.3 | P1 | |||
SORCS3 | ENST00000393176.2 | c.344+9258T>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000158 AC: 24AN: 151976Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.000158 AC: 24AN: 152094Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at