rs5906843
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001040663.4(GAGE1):c.*160C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.516 in 297,463 control chromosomes in the GnomAD database, including 30,815 homozygotes. There are 42,522 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_001040663.4 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 |
---|---|---|---|---|---|---|---|
GAGE1 | NM_001040663.4 | c.*160C>A | 3_prime_UTR_variant | 5/5 | ENST00000381700.11 | ||
GAGE1 | NR_102272.2 | n.780C>A | non_coding_transcript_exon_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAGE1 | ENST00000381700.11 | c.*160C>A | 3_prime_UTR_variant | 5/5 | 1 | NM_001040663.4 | P1 | ||
GAGE1 | ENST00000381709.6 | c.*237C>A | 3_prime_UTR_variant, NMD_transcript_variant | 6/6 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.440 AC: 48173AN: 109388Hom.: 9041 Cov.: 22 AF XY: 0.427 AC XY: 13604AN XY: 31836
GnomAD4 exome AF: 0.560 AC: 105301AN: 188044Hom.: 21774 Cov.: 4 AF XY: 0.604 AC XY: 28907AN XY: 47882
GnomAD4 genome ? AF: 0.440 AC: 48174AN: 109419Hom.: 9041 Cov.: 22 AF XY: 0.427 AC XY: 13615AN XY: 31879
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at