rs140207606
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004827.3(ABCG2):c.706C>T(p.Arg236Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000253 in 1,614,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as association (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_004827.3 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCG2 | NM_004827.3 | c.706C>T | p.Arg236Ter | stop_gained | 7/16 | ENST00000237612.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCG2 | ENST00000237612.8 | c.706C>T | p.Arg236Ter | stop_gained | 7/16 | 1 | NM_004827.3 | P1 | |
ABCG2 | ENST00000515655.5 | c.706C>T | p.Arg236Ter | stop_gained | 7/16 | 1 | |||
ABCG2 | ENST00000650821.1 | c.706C>T | p.Arg236Ter | stop_gained | 8/17 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000204 AC: 31AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000311 AC: 78AN: 251158Hom.: 0 AF XY: 0.000346 AC XY: 47AN XY: 135732
GnomAD4 exome AF: 0.000259 AC: 378AN: 1461722Hom.: 0 Cov.: 30 AF XY: 0.000285 AC XY: 207AN XY: 727156
GnomAD4 genome ? AF: 0.000204 AC: 31AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74462
ClinVar
Submissions by phenotype
Blood group, Junior system Other:1
association, no assertion criteria provided | literature only | OMIM | Mar 18, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at