rs5930932
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_153834.4(ADGRG4):c.5371T>A(p.Phe1791Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F1791L) has been classified as Likely benign.
Frequency
Consequence
NM_153834.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADGRG4 | NM_153834.4 | c.5371T>A | p.Phe1791Ile | missense_variant | 6/26 | ENST00000394143.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRG4 | ENST00000394143.6 | c.5371T>A | p.Phe1791Ile | missense_variant | 6/26 | 1 | NM_153834.4 | P1 | |
ADGRG4 | ENST00000394141.1 | c.4756T>A | p.Phe1586Ile | missense_variant | 3/23 | 1 | |||
ADGRG4 | ENST00000370652.5 | c.5371T>A | p.Phe1791Ile | missense_variant | 4/24 | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 110051Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 32347 FAILED QC
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 110051Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 32347
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at