rs2156079
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000608591.5(APP-DT):n.182+4960G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.297 in 152,064 control chromosomes in the GnomAD database, including 6,992 homozygotes. 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
ENST00000608591.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APP-DT | ENST00000608591.5 | n.182+4960G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
APP-DT | ENST00000609365.2 | n.173-4525G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
APP-DT | ENST00000664668.1 | n.154-4525G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.297 AC: 45172AN: 151944Hom.: 6985 Cov.: 33
GnomAD4 genome ? AF: 0.297 AC: 45207AN: 152064Hom.: 6992 Cov.: 33 AF XY: 0.290 AC XY: 21562AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at