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NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro) AND Breast neoplasm

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000438802.1

Allele description [Variation Report for NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro)]

NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro)

Gene:
ESR1:estrogen receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_000125.4(ESR1):c.1387T>C (p.Ser463Pro)
HGVS:
  • NC_000006.12:g.152094402T>C
  • NG_008493.2:g.442712T>C
  • NM_000125.4:c.1387T>CMANE SELECT
  • NM_001122740.2:c.1387T>C
  • NM_001122741.2:c.1387T>C
  • NM_001122742.2:c.1387T>C
  • NM_001291230.2:c.1393T>C
  • NM_001291241.2:c.1384T>C
  • NM_001328100.2:c.851-30864T>C
  • NM_001385568.1:c.1387T>C
  • NM_001385569.1:c.1387T>C
  • NM_001385570.1:c.1370-4330T>C
  • NM_001385571.1:c.1370-4330T>C
  • NM_001385572.1:c.1370-4330T>C
  • NP_000116.2:p.Ser463Pro
  • NP_001116212.1:p.Ser463Pro
  • NP_001116213.1:p.Ser463Pro
  • NP_001116214.1:p.Ser463Pro
  • NP_001278159.1:p.Ser465Pro
  • NP_001278170.1:p.Ser462Pro
  • NP_001372497.1:p.Ser463Pro
  • NP_001372498.1:p.Ser463Pro
  • LRG_992:g.442712T>C
  • NC_000006.11:g.152415537T>C
Protein change:
S462P
Links:
dbSNP: rs1057519714
NCBI 1000 Genomes Browser:
rs1057519714
Molecular consequence:
  • NM_001328100.2:c.851-30864T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385570.1:c.1370-4330T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385571.1:c.1370-4330T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385572.1:c.1370-4330T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000125.4:c.1387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122740.2:c.1387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122741.2:c.1387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122742.2:c.1387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291230.2:c.1393T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291241.2:c.1384T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385568.1:c.1387T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385569.1:c.1387T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast neoplasm
Synonyms:
Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504225Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W, Shen Y, Won H, Green B, Sakr RA, Will M, Li Z, Gala K, Fanning S, King TA, Hudis C, Chen D, Taran T, Hortobagyi G, Greene G, Berger M, Baselga J, Chandarlapaty S.

Nat Genet. 2013 Dec;45(12):1439-45. doi: 10.1038/ng.2822. Epub 2013 Nov 3.

PubMed [citation]
PMID:
24185512
PMCID:
PMC3903423

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504225.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022