chrX-136349077-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_153834.4(ADGRG4):āc.5371T>Cā(p.Phe1791Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.472 in 1,094,075 control chromosomes in the GnomAD database, including 82,105 homozygotes. There are 170,593 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/18 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_153834.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADGRG4 | NM_153834.4 | c.5371T>C | p.Phe1791Leu | missense_variant | 6/26 | ENST00000394143.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRG4 | ENST00000394143.6 | c.5371T>C | p.Phe1791Leu | missense_variant | 6/26 | 1 | NM_153834.4 | P1 | |
ADGRG4 | ENST00000394141.1 | c.4756T>C | p.Phe1586Leu | missense_variant | 3/23 | 1 | |||
ADGRG4 | ENST00000370652.5 | c.5371T>C | p.Phe1791Leu | missense_variant | 4/24 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.499 AC: 54871AN: 109966Hom.: 10097 Cov.: 22 AF XY: 0.486 AC XY: 15704AN XY: 32304
GnomAD3 exomes AF: 0.462 AC: 82567AN: 178694Hom.: 12338 AF XY: 0.466 AC XY: 29742AN XY: 63808
GnomAD4 exome AF: 0.472 AC: 516862AN: 1094075Hom.: 82105 Cov.: 33 AF XY: 0.473 AC XY: 170593AN XY: 360697
GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.499 AC: 54909AN: 110024Hom.: 10098 Cov.: 22 AF XY: 0.486 AC XY: 15741AN XY: 32372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at