chr3-129061826-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000174.5(GP9):c.87G>A(p.Leu29Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000548 in 1,460,454 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_000174.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GP9 | NM_000174.5 | c.87G>A | p.Leu29Leu | synonymous_variant | Exon 3 of 3 | ENST00000307395.5 | NP_000165.1 | |
GP9 | XM_047447997.1 | c.87G>A | p.Leu29Leu | synonymous_variant | Exon 2 of 2 | XP_047303953.1 | ||
GP9 | XM_005247374.4 | c.*289G>A | downstream_gene_variant | XP_005247431.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460454Hom.: 0 Cov.: 32 AF XY: 0.00000826 AC XY: 6AN XY: 726506
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.