rs2180968
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000438082.1(ENSG00000225913):n.189C>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.337 in 152,224 control chromosomes in the GnomAD database, including 9,069 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
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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 |
---|---|---|---|---|---|---|---|---|---|
ENST00000438082.1 | n.189C>A | non_coding_transcript_exon_variant | 4/4 | 3 | |||||
ENST00000354527.2 | n.146+885G>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.337 AC: 51191AN: 151958Hom.: 9057 Cov.: 33
GnomAD4 exome AF: 0.331 AC: 49AN: 148Hom.: 8 Cov.: 0 AF XY: 0.340 AC XY: 36AN XY: 106
GnomAD4 genome ? AF: 0.337 AC: 51224AN: 152076Hom.: 9061 Cov.: 33 AF XY: 0.327 AC XY: 24327AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at