5-90647754-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_032119.4(ADGRV1):c.3279G>A(p.Leu1093=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,459,582 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. L1093L) has been classified as Likely benign.
Frequency
Consequence
NM_032119.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADGRV1 | NM_032119.4 | c.3279G>A | p.Leu1093= | synonymous_variant | 17/90 | ENST00000405460.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRV1 | ENST00000405460.9 | c.3279G>A | p.Leu1093= | synonymous_variant | 17/90 | 1 | NM_032119.4 | P1 | |
ADGRV1 | ENST00000640403.1 | c.582G>A | p.Leu194= | synonymous_variant | 7/29 | 5 | |||
ADGRV1 | ENST00000504142.2 | n.2045G>A | non_coding_transcript_exon_variant | 11/14 | 5 | ||||
ADGRV1 | ENST00000639676.1 | n.877G>A | non_coding_transcript_exon_variant | 5/11 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 247886Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134504
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459582Hom.: 0 Cov.: 37 AF XY: 0.00000413 AC XY: 3AN XY: 726006
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at