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NM_001253852.3(AP4B1):c.683G>A (p.Arg228His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 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:
RCV002318064.9

Allele description [Variation Report for NM_001253852.3(AP4B1):c.683G>A (p.Arg228His)]

NM_001253852.3(AP4B1):c.683G>A (p.Arg228His)

Genes:
AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001253852.3(AP4B1):c.683G>A (p.Arg228His)
HGVS:
  • NC_000001.11:g.113900335C>T
  • NG_031901.1:g.9785G>A
  • NG_057565.1:g.717C>T
  • NM_001253852.3:c.683G>AMANE SELECT
  • NM_001253853.3:c.386G>A
  • NM_001308312.2:c.179G>A
  • NM_006594.5:c.683G>A
  • NP_001240781.1:p.Arg228His
  • NP_001240782.1:p.Arg129His
  • NP_001295241.1:p.Arg60His
  • NP_006585.2:p.Arg228His
  • LRG_1219:g.717C>T
  • NC_000001.10:g.114442957C>T
  • NM_006594.2:c.683G>A
  • NR_037864.1:n.832C>T
  • NR_125965.1:n.1000C>T
Protein change:
R129H
Links:
dbSNP: rs773497515
NCBI 1000 Genomes Browser:
rs773497515
Molecular consequence:
  • NM_001253852.3:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001253853.3:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308312.2:c.179G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006594.5:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037864.1:n.832C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125965.1:n.1000C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849713Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 31, 2017) 		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, SCV000849713.5

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

Description

The p.R228H variant (also known as c.683G>A), located in coding exon 5 of the AP4B1 gene, results from a G to A substitution at nucleotide position 683. The arginine at codon 228 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024