6-49606895-C-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS1
The NM_000324.3(RHAG):āc.1165G>Cā(p.Gly389Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000769 in 1,612,028 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar.
Frequency
Consequence
NM_000324.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHAG | NM_000324.3 | c.1165G>C | p.Gly389Arg | missense_variant | 9/10 | ENST00000371175.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHAG | ENST00000371175.10 | c.1165G>C | p.Gly389Arg | missense_variant | 9/10 | 1 | NM_000324.3 | P2 | |
RHAG | ENST00000646272.1 | c.1165G>C | p.Gly389Arg | missense_variant | 9/10 | A2 | |||
RHAG | ENST00000646939.1 | c.1043G>C | p.Gly348Ala | missense_variant | 8/9 | ||||
RHAG | ENST00000646963.1 | c.1138+255G>C | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152034Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000147 AC: 37AN: 250984Hom.: 2 AF XY: 0.000214 AC XY: 29AN XY: 135638
GnomAD4 exome AF: 0.0000801 AC: 117AN: 1459876Hom.: 1 Cov.: 29 AF XY: 0.000110 AC XY: 80AN XY: 726396
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152152Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74382
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | May 01, 2024 | RHAG: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at