chr11-121452614-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003105.6(SORL1):c.283C>G(p.Gln95Glu) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000000752 in 1,330,422 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003105.6 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SORL1 | NM_003105.6 | c.283C>G | p.Gln95Glu | missense_variant, splice_region_variant | 1/48 | ENST00000260197.12 | |
SORL1-AS1 | NR_183636.1 | n.293+61G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SORL1 | ENST00000260197.12 | c.283C>G | p.Gln95Glu | missense_variant, splice_region_variant | 1/48 | 1 | NM_003105.6 | P1 | |
SORL1 | ENST00000532451.1 | n.235C>G | splice_region_variant, non_coding_transcript_exon_variant | 1/15 | 1 | ||||
SORL1-AS1 | ENST00000501964.1 | n.339+61G>C | intron_variant, non_coding_transcript_variant | 2 | |||||
SORL1-AS1 | ENST00000529160.1 | n.245+61G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 7.52e-7 AC: 1AN: 1330422Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 654256
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2022 | The c.283C>G (p.Q95E) alteration is located in exon 1 (coding exon 1) of the SORL1 gene. This alteration results from a C to G substitution at nucleotide position 283, causing the glutamine (Q) at amino acid position 95 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.