rs779108045
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005360.5(MAF):āc.702A>Gā(p.Gly234=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 974,998 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. Synonymous variant affecting the same amino acid position (i.e. G234G) has been classified as Likely benign.
Frequency
Consequence
NM_005360.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAF | NM_005360.5 | c.702A>G | p.Gly234= | synonymous_variant | 1/2 | ENST00000326043.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAF | ENST00000326043.5 | c.702A>G | p.Gly234= | synonymous_variant | 1/2 | 1 | NM_005360.5 | A2 | |
MAF | ENST00000569649.1 | c.702A>G | p.Gly234= | synonymous_variant | 1/2 | 5 | P4 | ||
MAF | ENST00000393350.1 | c.702A>G | p.Gly234= | synonymous_variant | 1/1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000695 AC: 1AN: 143936Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000361 AC: 3AN: 831062Hom.: 0 Cov.: 28 AF XY: 0.00000780 AC XY: 3AN XY: 384786
GnomAD4 genome ? AF: 0.00000695 AC: 1AN: 143936Hom.: 0 Cov.: 29 AF XY: 0.0000143 AC XY: 1AN XY: 69876
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at