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NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 16, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001708750.10

Allele description [Variation Report for NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA]

NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA

Gene:
ESR1:estrogen receptor 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
6q25.1
Genomic location:
Preferred name:
NM_001122742.2(ESR1):c.-70-3748_-70-3747insAA
HGVS:
  • NC_000006.12:g.151804095_151804096insAA
  • NG_008493.2:g.152405_152406insAA
  • NM_001122742.2:c.-70-3748_-70-3747insAA
  • NM_001385568.1:c.-70-3748_-70-3747insAA
  • NM_001385570.1:c.-70-3748_-70-3747insAA
  • LRG_992:g.152405_152406insAA
  • NC_000006.11:g.152125230_152125231insAA
Links:
dbSNP: rs75311867
NCBI 1000 Genomes Browser:
rs75311867
Molecular consequence:
  • NM_001122742.2:c.-70-3748_-70-3747insAA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385568.1:c.-70-3748_-70-3747insAA - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385570.1:c.-70-3748_-70-3747insAA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001936070GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Oct 16, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001936070.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 30823486)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024