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NM_007347.5(AP4E1):c.1591G>A (p.Glu531Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 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:
RCV003286950.2

Allele description [Variation Report for NM_007347.5(AP4E1):c.1591G>A (p.Glu531Lys)]

NM_007347.5(AP4E1):c.1591G>A (p.Glu531Lys)

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.1591G>A (p.Glu531Lys)
HGVS:
  • NC_000015.10:g.50958534G>A
  • NG_031875.2:g.54863G>A
  • NM_001252127.2:c.1366G>A
  • NM_007347.5:c.1591G>AMANE SELECT
  • NP_001239056.1:p.Glu456Lys
  • NP_031373.2:p.Glu531Lys
  • LRG_732t1:c.1591G>A
  • LRG_732:g.54863G>A
  • LRG_732p1:p.Glu531Lys
  • NC_000015.9:g.51250731G>A
  • NM_007347.3:c.1591G>A
Protein change:
E456K
Molecular consequence:
  • NM_001252127.2:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007347.5:c.1591G>A - 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
SCV003967338Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 18, 2023) 		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, SCV003967338.2

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

Description

The c.1591G>A (p.E531K) alteration is located in exon 14 (coding exon 14) of the AP4E1 gene. This alteration results from a G to A substitution at nucleotide position 1591, causing the glutamic acid (E) at amino acid position 531 to be replaced by a lysine (K). 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: May 1, 2024