6-49606843-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000324.3(RHAG):c.1212+5T>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000126 in 1,581,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000324.3 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RHAG | ENST00000371175.10 | c.1212+5T>A | splice_region_variant, intron_variant | Intron 9 of 9 | 1 | NM_000324.3 | ENSP00000360217.4 | |||
RHAG | ENST00000646272.1 | c.1217T>A | p.Leu406Gln | missense_variant | Exon 9 of 10 | ENSP00000494337.1 | ||||
RHAG | ENST00000646963.1 | c.1138+307T>A | intron_variant | Intron 8 of 8 | ENSP00000495337.1 | |||||
RHAG | ENST00000646939.1 | c.*34+5T>A | splice_region_variant, intron_variant | Intron 8 of 8 | ENSP00000494709.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 33
GnomAD4 exome AF: 7.00e-7 AC: 1AN: 1429394Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 713264
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at