chr11-121605213-T-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_003105.6(SORL1):c.4752T>A(p.Ala1584Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.332 in 1,612,564 control chromosomes in the GnomAD database, including 95,938 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003105.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SORL1 | NM_003105.6 | c.4752T>A | p.Ala1584Ala | synonymous_variant | Exon 34 of 48 | ENST00000260197.12 | NP_003096.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.302 AC: 45901AN: 151984Hom.: 8086 Cov.: 32
GnomAD3 exomes AF: 0.389 AC: 97703AN: 250848Hom.: 21511 AF XY: 0.394 AC XY: 53368AN XY: 135568
GnomAD4 exome AF: 0.336 AC: 490019AN: 1460462Hom.: 87832 Cov.: 35 AF XY: 0.342 AC XY: 248370AN XY: 726598
GnomAD4 genome AF: 0.302 AC: 45964AN: 152102Hom.: 8106 Cov.: 32 AF XY: 0.314 AC XY: 23336AN XY: 74352
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
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SORL1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at