chr18-907674-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001099733.2(ADCYAP1):āc.126G>Cā(p.Ala42=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000019 in 1,578,866 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_001099733.2 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 |
---|---|---|---|---|---|---|---|
ADCYAP1 | NM_001099733.2 | c.126G>C | p.Ala42= | synonymous_variant | 3/5 | ENST00000450565.8 | |
ADCYAP1 | NM_001117.5 | c.126G>C | p.Ala42= | synonymous_variant | 2/4 | ||
ADCYAP1 | XM_005258081.5 | c.543G>C | p.Ala181= | synonymous_variant | 4/6 | ||
ADCYAP1 | XM_047437288.1 | c.126G>C | p.Ala42= | synonymous_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCYAP1 | ENST00000450565.8 | c.126G>C | p.Ala42= | synonymous_variant | 3/5 | 1 | NM_001099733.2 | P1 | |
ADCYAP1 | ENST00000579794.1 | c.126G>C | p.Ala42= | synonymous_variant | 2/4 | 1 | P1 | ||
ENST00000582554.1 | n.7C>G | non_coding_transcript_exon_variant | 1/2 | 5 | |||||
ADCYAP1 | ENST00000269200.5 | n.124G>C | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1426862Hom.: 0 Cov.: 62 AF XY: 0.00000282 AC XY: 2AN XY: 709116
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74238
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at