chr6-151880740-T-C
Variant summary
Our verdict is Benign. The variant received -11 ACMG points: 0P and 11B. BP4_ModerateBP7BA1
The NM_000125.4(ESR1):c.729T>C(p.Arg243Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.963 in 1,609,552 control chromosomes in the GnomAD database, including 746,158 homozygotes. 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
Publications
- estrogen resistance syndromeInheritance: AR Classification: SUPPORTIVE, LIMITED Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics, Orphanet
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ACMG classification
Our verdict: Benign. The variant received -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.973 AC: 148111AN: 152238Hom.: 72087 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.970 AC: 243858AN: 251378 AF XY: 0.970 show subpopulations
GnomAD4 exome AF: 0.962 AC: 1401412AN: 1457196Hom.: 674011 Cov.: 33 AF XY: 0.962 AC XY: 697957AN XY: 725372 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.973 AC: 148230AN: 152356Hom.: 72147 Cov.: 33 AF XY: 0.973 AC XY: 72440AN XY: 74482 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at