7-1092092-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001098201.3(GPER1):c.364C>T(p.Arg122Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000558 in 1,613,760 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001098201.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPER1 | NM_001098201.3 | c.364C>T | p.Arg122Trp | missense_variant | Exon 2 of 2 | ENST00000397088.4 | NP_001091671.1 | |
C7orf50 | NM_001318252.2 | c.129+35165G>A | intron_variant | Intron 2 of 4 | ENST00000397098.8 | NP_001305181.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPER1 | ENST00000397088.4 | c.364C>T | p.Arg122Trp | missense_variant | Exon 2 of 2 | 1 | NM_001098201.3 | ENSP00000380277.3 | ||
C7orf50 | ENST00000397098.8 | c.129+35165G>A | intron_variant | Intron 2 of 4 | 1 | NM_001318252.2 | ENSP00000380286.3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251374Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135878
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461550Hom.: 0 Cov.: 35 AF XY: 0.00000550 AC XY: 4AN XY: 727086
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.364C>T (p.R122W) alteration is located in exon 3 (coding exon 1) of the GPER1 gene. This alteration results from a C to T substitution at nucleotide position 364, causing the arginine (R) at amino acid position 122 to be replaced by a tryptophan (W). 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