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NM_007347.5(AP4E1):c.1796A>T (p.Asn599Ile) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 2024
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:
RCV004650415.1

Allele description [Variation Report for NM_007347.5(AP4E1):c.1796A>T (p.Asn599Ile)]

NM_007347.5(AP4E1):c.1796A>T (p.Asn599Ile)

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.1796A>T (p.Asn599Ile)
HGVS:
  • NC_000015.10:g.50958739A>T
  • NG_031875.2:g.55068A>T
  • NM_001252127.2:c.1571A>T
  • NM_007347.5:c.1796A>TMANE SELECT
  • NP_001239056.1:p.Asn524Ile
  • NP_031373.2:p.Asn599Ile
  • LRG_732t1:c.1796A>T
  • LRG_732:g.55068A>T
  • LRG_732p1:p.Asn599Ile
  • NC_000015.9:g.51250936A>T
  • NM_007347.3:c.1796A>T
Protein change:
N524I
Molecular consequence:
  • NM_001252127.2:c.1571A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007347.5:c.1796A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005141180Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 23, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005141180.1

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

Description

The c.1796A>T (p.N599I) alteration is located in exon 14 (coding exon 14) of the AP4E1 gene. This alteration results from a A to T substitution at nucleotide position 1796, causing the asparagine (N) at amino acid position 599 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024