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NM_004722.4(AP4M1):c.544-8_544-3del AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 26, 2017
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:
RCV000481653.1

Allele description [Variation Report for NM_004722.4(AP4M1):c.544-8_544-3del]

NM_004722.4(AP4M1):c.544-8_544-3del

Gene:
AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_004722.4(AP4M1):c.544-8_544-3del
HGVS:
  • NC_000007.14:g.100104084_100104089del
  • NG_016312.1:g.7578_7583del
  • NM_001363671.2:c.565-8_565-3del
  • NM_004722.4:c.544-8_544-3delMANE SELECT
  • NC_000007.13:g.99701707_99701712del
  • NM_004722.3:c.544-8_544-3delTTTCTC
Links:
dbSNP: rs1064794383
NCBI 1000 Genomes Browser:
rs1064794383
Molecular consequence:
  • NM_001363671.2:c.565-8_565-3del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004722.4:c.544-8_544-3del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569023GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 26, 2017) 		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, SCV000569023.3

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

Description

The c.544-8_544-3delTTTCTC variant in the AP4M1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. One splice predictor model indicates this deletion will affect the splice acceptor site in intron 6, while other models indicate a milder effect. The c.544-8_544-3delTTTCTC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.544-8_544-3delTTTCTC as a variant of uncertain significance.

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

Last Updated: Apr 23, 2022