4-88101287-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004827.3(ABCG2):āc.1310A>Gā(p.Gln437Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,880 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 Uncertain significance (ā ).
Frequency
Consequence
NM_004827.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCG2 | ENST00000237612.8 | c.1310A>G | p.Gln437Arg | missense_variant | Exon 11 of 16 | 1 | NM_004827.3 | ENSP00000237612.3 | ||
ABCG2 | ENST00000515655.5 | c.1310A>G | p.Gln437Arg | missense_variant | Exon 11 of 16 | 1 | ENSP00000426917.1 | |||
ABCG2 | ENST00000650821.1 | c.1310A>G | p.Gln437Arg | missense_variant | Exon 12 of 17 | ENSP00000498246.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251386Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135864
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461880Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727244
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1310A>G (p.Q437R) alteration is located in exon 11 (coding exon 10) of the ABCG2 gene. This alteration results from a A to G substitution at nucleotide position 1310, causing the glutamine (Q) at amino acid position 437 to be replaced by an arginine (R). 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