rs2231135
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XM_047416558.1(LOC124900867):āc.328T>Cā(p.Ser110Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0551 in 334,338 control chromosomes in the GnomAD database, including 625 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/5 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
XM_047416558.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC124900867 | XM_047416558.1 | c.328T>C | p.Ser110Pro | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCG2 | ENST00000505480.6 | c.-285T>C | 5_prime_UTR_variant | 1/4 | 1 | ||||
ABCG2 | ENST00000503830.2 | c.-20+363T>C | intron_variant | 1 | |||||
ABCG2 | ENST00000515655.5 | c.-19-18828T>C | intron_variant | 1 | |||||
ABCG2 | ENST00000650821.1 | c.-19-18828T>C | intron_variant | P1 |
Frequencies
GnomAD3 genomes AF: 0.0476 AC: 7240AN: 152090Hom.: 228 Cov.: 33
GnomAD4 exome AF: 0.0615 AC: 11196AN: 182134Hom.: 396 Cov.: 0 AF XY: 0.0623 AC XY: 6460AN XY: 103770
GnomAD4 genome AF: 0.0476 AC: 7239AN: 152204Hom.: 229 Cov.: 33 AF XY: 0.0486 AC XY: 3618AN XY: 74416
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at