rs504116
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000687368.1(ENSG00000282381):n.180+2155A>G 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 0.0447 in 152,182 control chromosomes in the GnomAD database, including 491 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
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105375334 | XR_001744938.2 | n.165+2155A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000687368.1 | n.180+2155A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000632111.1 | n.165+2155A>G | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000685802.1 | n.150+2155A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0446 AC: 6789AN: 152064Hom.: 491 Cov.: 32
GnomAD4 genome ? AF: 0.0447 AC: 6803AN: 152182Hom.: 491 Cov.: 32 AF XY: 0.0435 AC XY: 3240AN XY: 74424
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at