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NM_001253852.3(AP4B1):c.844C>T (p.Leu282=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 9, 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:
RCV002414373.2

Allele description [Variation Report for NM_001253852.3(AP4B1):c.844C>T (p.Leu282=)]

NM_001253852.3(AP4B1):c.844C>T (p.Leu282=)

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.844C>T (p.Leu282=)
HGVS:
  • NC_000001.11:g.113900174G>A
  • NG_031901.1:g.9946C>T
  • NG_057565.1:g.556G>A
  • NM_001253852.3:c.844C>TMANE SELECT
  • NM_001253853.3:c.547C>T
  • NM_001308312.2:c.340C>T
  • NM_006594.5:c.844C>T
  • NP_001240781.1:p.Leu282=
  • NP_001240782.1:p.Leu183=
  • NP_001295241.1:p.Leu114=
  • NP_006585.2:p.Leu282=
  • LRG_1219:g.556G>A
  • NC_000001.10:g.114442796G>A
  • NM_006594.2:c.844C>T
  • NR_037864.1:n.671G>A
  • NR_125965.1:n.839G>A
Molecular consequence:
  • NR_037864.1:n.671G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125965.1:n.839G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001253852.3:c.844C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001253853.3:c.547C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001308312.2:c.340C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006594.5:c.844C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002676001Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 9, 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, SCV002676001.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024