ClinVar Genomic variation as it relates to human health
NM_000125.4(ESR1):c.1782G>A (p.Thr594=)
Germline
Classification
(4)
Benign/Likely benign
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ESR1 | - | - |
GRCh38 GRCh37 |
111 | 210 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Aug 17, 2018 | RCV001674740.2 | |
risk factor (1) |
|
Jun 1, 2004 | RCV001843377.1 | |
Likely benign (1) |
|
Mar 23, 2022 | RCV002506722.1 | |
Benign (1) |
|
Mar 11, 2019 | RCV003975895.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs2228480 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Mar 17, 2024
NCBI staff provided an HGVS expression for 133430.0005 based on this statement in the paper by Colson et al., 2004 (PubMed 15133719): 'occurs in codon 594 of exon 8 and consists of a guanine to adenine change at nucleotide 2014 (SNP rs2228480)'.