rs2077647
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000125.4(ESR1):c.30T>A(p.Ser10=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,613,388 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000125.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ESR1 | NM_000125.4 | c.30T>A | p.Ser10= | synonymous_variant | 1/8 | ENST00000206249.8 | NP_000116.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ESR1 | ENST00000206249.8 | c.30T>A | p.Ser10= | synonymous_variant | 1/8 | 1 | NM_000125.4 | ENSP00000206249 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151972Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247438Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134134
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461416Hom.: 0 Cov.: 50 AF XY: 0.00 AC XY: 0AN XY: 727004
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151972Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74204
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at