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NM_004722.4(AP4M1):c.742A>G (p.Ile248Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 26, 2021
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:
RCV002961746.2

Allele description [Variation Report for NM_004722.4(AP4M1):c.742A>G (p.Ile248Val)]

NM_004722.4(AP4M1):c.742A>G (p.Ile248Val)

Gene:
AP4M1:adaptor related protein complex 4 subunit mu 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_004722.4(AP4M1):c.742A>G (p.Ile248Val)
HGVS:
  • NC_000007.14:g.100105254A>G
  • NG_016312.1:g.8748A>G
  • NG_029454.1:g.19605T>C
  • NG_029454.2:g.26917T>C
  • NM_001363671.2:c.763A>G
  • NM_004722.4:c.742A>GMANE SELECT
  • NP_001350600.1:p.Ile255Val
  • NP_004713.2:p.Ile248Val
  • NC_000007.13:g.99702877A>G
  • NM_004722.3:c.742A>G
Protein change:
I248V
Molecular consequence:
  • NM_001363671.2:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004722.4:c.742A>G - 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
SCV003688786Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 26, 2021) 		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, SCV003688786.2

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

Description

The c.742A>G (p.I248V) alteration is located in exon 10 (coding exon 10) of the AP4M1 gene. This alteration results from a A to G substitution at nucleotide position 742, causing the isoleucine (I) at amino acid position 248 to be replaced by a valine (V). 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