rs144100272
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000174.5(GP9):c.-124C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000446 in 448,578 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_000174.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GP9 | NM_000174.5 | c.-124C>G | 5_prime_UTR_variant | Exon 2 of 3 | ENST00000307395.5 | NP_000165.1 | ||
GP9 | XM_005247374.4 | c.343C>G | p.Arg115Gly | missense_variant | Exon 4 of 4 | XP_005247431.2 | ||
GP9 | XM_047447997.1 | c.-12-220C>G | intron_variant | Intron 1 of 1 | XP_047303953.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000446 AC: 2AN: 448578Hom.: 0 Cov.: 3 AF XY: 0.00000423 AC XY: 1AN XY: 236424
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.