3-100633285-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032787.3(ADGRG7):c.355C>T(p.Arg119Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000477 in 1,489,736 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R119Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_032787.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151766Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000451 AC: 9AN: 199406Hom.: 0 AF XY: 0.0000550 AC XY: 6AN XY: 109112
GnomAD4 exome AF: 0.0000508 AC: 68AN: 1337970Hom.: 0 Cov.: 29 AF XY: 0.0000604 AC XY: 40AN XY: 661798
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151766Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74114
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.355C>T (p.R119W) alteration is located in exon 4 (coding exon 4) of the ADGRG7 gene. This alteration results from a C to T substitution at nucleotide position 355, causing the arginine (R) at amino acid position 119 to be replaced by a tryptophan (W). 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