X-136322847-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153834.4(ADGRG4):c.140A>T(p.Asp47Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,208,749 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153834.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADGRG4 | NM_153834.4 | c.140A>T | p.Asp47Val | missense_variant | 5/26 | ENST00000394143.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRG4 | ENST00000394143.6 | c.140A>T | p.Asp47Val | missense_variant | 5/26 | 1 | NM_153834.4 | P1 | |
ADGRG4 | ENST00000394141.1 | c.70+14000A>T | intron_variant | 1 | |||||
ADGRG4 | ENST00000370652.5 | c.140A>T | p.Asp47Val | missense_variant | 3/24 | 5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000178 AC: 2AN: 112097Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 34255
GnomAD4 exome AF: 9.12e-7 AC: 1AN: 1096652Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 1AN XY: 362032
GnomAD4 genome AF: 0.0000178 AC: 2AN: 112097Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 34255
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.140A>T (p.D47V) alteration is located in exon 5 (coding exon 2) of the ADGRG4 gene. This alteration results from a A to T substitution at nucleotide position 140, causing the aspartic acid (D) at amino acid position 47 to be replaced by a valine (V). 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