chr7-45574930-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_021116.4(ADCY1):c.387C>A(p.Phe129Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,459,700 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. F129F) has been classified as Likely benign.
Frequency
Consequence
NM_021116.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADCY1 | NM_021116.4 | c.387C>A | p.Phe129Leu | missense_variant | 1/20 | ENST00000297323.12 | |
ADCY1 | XM_005249584.4 | c.387C>A | p.Phe129Leu | missense_variant | 1/19 | ||
ADCY1 | XM_005249585.3 | c.387C>A | p.Phe129Leu | missense_variant | 1/9 | ||
ADCY1 | NM_001281768.2 | c.-289C>A | 5_prime_UTR_variant | 2/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADCY1 | ENST00000297323.12 | c.387C>A | p.Phe129Leu | missense_variant | 1/20 | 1 | NM_021116.4 | P1 | |
ADCY1 | ENST00000432715.5 | c.-289C>A | 5_prime_UTR_variant | 2/10 | 2 | ||||
ADCY1 | ENST00000621543.1 | c.-289C>A | 5_prime_UTR_variant | 1/9 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000411 AC: 1AN: 243438Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133536
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459700Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726222
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 27, 2022 | The c.387C>A (p.F129L) alteration is located in exon 1 (coding exon 1) of the ADCY1 gene. This alteration results from a C to A substitution at nucleotide position 387, causing the phenylalanine (F) at amino acid position 129 to be replaced by a leucine (L). 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