chr8-130780565-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001115.3(ADCY8):c.3581C>T(p.Ala1194Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,614,020 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A1194T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001115.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY8 | NM_001115.3 | c.3581C>T | p.Ala1194Val | missense_variant | 18/18 | ENST00000286355.10 | |
ADCY8 | XM_005250769.4 | c.3491C>T | p.Ala1164Val | missense_variant | 17/17 | ||
ADCY8 | XM_006716501.4 | c.3383C>T | p.Ala1128Val | missense_variant | 17/17 | ||
ADCY8 | XM_017013006.2 | c.3293C>T | p.Ala1098Val | missense_variant | 16/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY8 | ENST00000286355.10 | c.3581C>T | p.Ala1194Val | missense_variant | 18/18 | 1 | NM_001115.3 | P1 | |
ADCY8 | ENST00000377928.7 | c.3188C>T | p.Ala1063Val | missense_variant | 15/15 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251148Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135724
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461870Hom.: 0 Cov.: 35 AF XY: 0.00000550 AC XY: 4AN XY: 727232
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 03, 2021 | The c.3581C>T (p.A1194V) alteration is located in exon 18 (coding exon 18) of the ADCY8 gene. This alteration results from a C to T substitution at nucleotide position 3581, causing the alanine (A) at amino acid position 1194 to be replaced by a valine (V). 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