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NM_012186.3(FOXE3):c.276C>T (p.Leu92=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 24, 2023
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:
RCV003330985.1

Allele description [Variation Report for NM_012186.3(FOXE3):c.276C>T (p.Leu92=)]

NM_012186.3(FOXE3):c.276C>T (p.Leu92=)

Genes:
FOXE3:forkhead box E3 [Gene - OMIM - HGNC]
LINC01389:long intergenic non-protein coding RNA 1389 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p33
Genomic location:
Preferred name:
NM_012186.3(FOXE3):c.276C>T (p.Leu92=)
HGVS:
  • NC_000001.11:g.47416591C>T
  • NG_016192.1:g.5520C>T
  • NM_012186.3:c.276C>TMANE SELECT
  • NP_036318.1:p.Leu92=
  • NC_000001.10:g.47882263C>T
  • NM_012186.2:c.276C>T
Links:
dbSNP: rs143712915
NCBI 1000 Genomes Browser:
rs143712915
Molecular consequence:
  • NM_012186.3:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004039352Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Benign
(Aug 24, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004039352.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024