chr16-90040338-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001481.3(GAS8):āc.1050C>Gā(p.Thr350=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000069 in 1,449,194 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. T350T) has been classified as Benign.
Frequency
Consequence
NM_001481.3 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 |
---|---|---|---|---|---|---|---|
GAS8 | NM_001481.3 | c.1050C>G | p.Thr350= | synonymous_variant | 9/11 | ENST00000268699.9 | |
URAHP | NR_027335.2 | n.772G>C | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS8 | ENST00000268699.9 | c.1050C>G | p.Thr350= | synonymous_variant | 9/11 | 1 | NM_001481.3 | P4 | |
URAHP | ENST00000409873.5 | n.772G>C | non_coding_transcript_exon_variant | 5/5 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000438 AC: 1AN: 228100Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 123304
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1449194Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 719604
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at