rs5970170
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004961.4(GABRE):c.*925A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.13 in 110,826 control chromosomes in the GnomAD database, including 709 homozygotes. There are 4,171 hemizygotes in GnomAD. 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
NM_004961.4 3_prime_UTR
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 |
---|---|---|---|---|---|---|---|
GABRE | NM_004961.4 | c.*925A>G | 3_prime_UTR_variant | 9/9 | ENST00000370328.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GABRE | ENST00000370328.4 | c.*925A>G | 3_prime_UTR_variant | 9/9 | 1 | NM_004961.4 | P1 | ||
GABRE | ENST00000486255.1 | n.5525A>G | non_coding_transcript_exon_variant | 3/3 | 1 | ||||
GABRE | ENST00000483564.5 | n.2096A>G | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.130 AC: 14361AN: 110745Hom.: 710 Cov.: 23 AF XY: 0.126 AC XY: 4157AN XY: 33039
GnomAD4 exome AF: 0.214 AC: 6AN: 28Hom.: 0 Cov.: 0 AF XY: 0.222 AC XY: 4AN XY: 18
GnomAD4 genome ? AF: 0.130 AC: 14370AN: 110798Hom.: 709 Cov.: 23 AF XY: 0.126 AC XY: 4167AN XY: 33102
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at