chr8-130884595-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001115.3(ADCY8):āc.2078T>Cā(p.Leu693Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,578 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001115.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY8 | NM_001115.3 | c.2078T>C | p.Leu693Pro | missense_variant | 8/18 | ENST00000286355.10 | |
LOC105375761 | XR_001746091.3 | n.51A>G | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY8 | ENST00000286355.10 | c.2078T>C | p.Leu693Pro | missense_variant | 8/18 | 1 | NM_001115.3 | P1 | |
ADCY8 | ENST00000377928.7 | c.2078T>C | p.Leu693Pro | missense_variant | 8/15 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461578Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727100
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 13, 2024 | The c.2078T>C (p.L693P) alteration is located in exon 8 (coding exon 8) of the ADCY8 gene. This alteration results from a T to C substitution at nucleotide position 2078, causing the leucine (L) at amino acid position 693 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.