LRG_170p1:p.Lys389_Gln410delinsLys AND Hermansky Pudlak syndrome 2

Clinical significance:Pathogenic (Last evaluated: Oct 11, 2012)

Review status:2 stars out of maximum of 4 stars

classified by multiple submitters

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000006743.1

Allele description [Variation Report for LRG_170p1:p.Lys389_Gln410delinsLys]

Gene:
AP3B1:adaptor-related protein complex 3, beta 1 subunit [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
5q14
Genomic location:
Chr5:77461436 - 77471451 (on Assembly GRCh37)
HGVS:
Links:
OMIM: 603401.0001

Condition(s)

Name:
Hermansky Pudlak syndrome 2 (HPS2)
Identifiers:
MedGen: C1842362; Orphanet: 79430; OMIM: 608233
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000026935OMIMPathogenic
(Nov 9, 2010)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000041031GeneReviewspathologic
(Oct 11, 2012)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS.

Mol Cell. 1999 Jan;3(1):11-21.

PubMed [citation]
PMID:
10024875

Details of each submission

From OMIM, SCV000026935.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Dell'Angelica et al. (1999) described a 63-bp deletion in 1 allele of the beta-3A-adaptin cDNA sequence in 2 affected members of a family with HPS2 (608233). The other allele had a leu540-to-arg substitution (603401.0002).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From GeneReviews, SCV000041031.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 13, 2015

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