NM_004827.3:c.1115C>A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004827.3(ABCG2):c.1115C>A(p.Ser372Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,614,064 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004827.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABCG2 | ENST00000237612.8 | c.1115C>A | p.Ser372Tyr | missense_variant | Exon 9 of 16 | 1 | NM_004827.3 | ENSP00000237612.3 | ||
ABCG2 | ENST00000515655.5 | c.1115C>A | p.Ser372Tyr | missense_variant | Exon 9 of 16 | 1 | ENSP00000426917.1 | |||
ABCG2 | ENST00000650821.1 | c.1115C>A | p.Ser372Tyr | missense_variant | Exon 10 of 17 | ENSP00000498246.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152188Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251386Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135858
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727240
GnomAD4 genome AF: 0.000105 AC: 16AN: 152188Hom.: 1 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1115C>A (p.S372Y) alteration is located in exon 9 (coding exon 8) of the ABCG2 gene. This alteration results from a C to A substitution at nucleotide position 1115, causing the serine (S) at amino acid position 372 to be replaced by a tyrosine (Y). 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