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NM_007347.5(AP4E1):c.1066+51T>C AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2018
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:
RCV000837726.1

Allele description

NM_007347.5(AP4E1):c.1066+51T>C

Gene:
AP4E1:adaptor related protein complex 4 subunit epsilon 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.2
Genomic location:
Preferred name:
NM_007347.5(AP4E1):c.1066+51T>C
HGVS:
  • NC_000015.10:g.50941615T>C
  • NG_031875.2:g.37944T>C
  • NM_001252127.2:c.841+51T>C
  • NM_007347.5:c.1066+51T>CMANE SELECT
  • LRG_732t1:c.1066+51T>C
  • LRG_732:g.37944T>C
  • NC_000015.9:g.51233812T>C
  • NG_031875.1:g.37944T>C
  • NM_007347.4:c.1066+51T>C
Links:
dbSNP: rs2291107
NCBI 1000 Genomes Browser:
rs2291107
Molecular consequence:
  • NM_001252127.2:c.841+51T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007347.5:c.1066+51T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000979586GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Jun 14, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000979586.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Dec 24, 2023