6-68639127-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001704.3(ADGRB3):c.452C>G(p.Ser151Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000781 in 1,613,938 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. S151Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001704.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADGRB3 | ENST00000370598.6 | c.452C>G | p.Ser151Cys | missense_variant | Exon 3 of 32 | 1 | NM_001704.3 | ENSP00000359630.1 | ||
ADGRB3 | ENST00000546190.5 | c.452C>G | p.Ser151Cys | missense_variant | Exon 1 of 30 | 1 | ENSP00000441821.2 | |||
ADGRB3 | ENST00000684661.1 | n.452C>G | non_coding_transcript_exon_variant | Exon 3 of 32 | ENSP00000507613.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152056Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250978Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135692
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000839 AC XY: 61AN XY: 727240
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.452C>G (p.S151C) alteration is located in exon 3 (coding exon 1) of the ADGRB3 gene. This alteration results from a C to G substitution at nucleotide position 452, causing the serine (S) at amino acid position 151 to be replaced by a cysteine (C). 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