rs5930931
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_153834.4(ADGRG4):c.1103C>A(p.Pro368His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.465 in 1,205,088 control chromosomes in the GnomAD database, including 88,305 homozygotes. There are 183,084 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADGRG4 | NM_153834.4 | c.1103C>A | p.Pro368His | missense_variant | 6/26 | ENST00000394143.6 | NP_722576.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADGRG4 | ENST00000394143.6 | c.1103C>A | p.Pro368His | missense_variant | 6/26 | 1 | NM_153834.4 | ENSP00000377699.1 | ||
ADGRG4 | ENST00000394141.1 | c.488C>A | p.Pro163His | missense_variant | 3/23 | 1 | ENSP00000377697.1 | |||
ADGRG4 | ENST00000370652.5 | c.1103C>A | p.Pro368His | missense_variant | 4/24 | 5 | ENSP00000359686.1 |
Frequencies
GnomAD3 genomes AF: 0.480 AC: 53304AN: 111002Hom.: 9308 Cov.: 23 AF XY: 0.471 AC XY: 15678AN XY: 33278
GnomAD3 exomes AF: 0.442 AC: 80089AN: 181345Hom.: 11473 AF XY: 0.443 AC XY: 29324AN XY: 66259
GnomAD4 exome AF: 0.463 AC: 506931AN: 1094031Hom.: 78996 Cov.: 32 AF XY: 0.465 AC XY: 167374AN XY: 359915
GnomAD4 genome AF: 0.480 AC: 53337AN: 111057Hom.: 9309 Cov.: 23 AF XY: 0.471 AC XY: 15710AN XY: 33343
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at