NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) AND Hermansky-Pudlak syndrome 6

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

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000003301.4

Allele description [Variation Report for NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs)]

NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs)

Gene:
HPS6:HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs)
HGVS:
  • NC_000010.11:g.102067188_102067191del
  • NG_012029.1:g.6799_6802del
  • NM_024747.6:c.1714_1717delMANE SELECT
  • NP_079023.2:p.Leu572fs
  • LRG_564:g.6799_6802del
  • NC_000010.10:g.103826945_103826948del
  • NM_024747.4:c.1713_1716delTCTG
Protein change:
L572fs
Links:
OMIM: 607522.0001; dbSNP: rs281865113
NCBI 1000 Genomes Browser:
rs281865113
Molecular consequence:
  • NM_024747.6:c.1714_1717del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Hermansky-Pudlak syndrome 6 (HPS6)
Identifiers:
MONDO: MONDO:0013558; MedGen: C3888007; Orphanet: 231512; Orphanet: 79430; OMIM: 614075

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023459OMIMno assertion criteria providedPathogenic
(Feb 1, 2003)
germlineliterature only

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

SCV000041509GeneReviewsno assertion criteria providedpathologic
(Oct 11, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT.

Nat Genet. 2003 Feb;33(2):145-53. Epub 2003 Jan 27.

PubMed [citation]
PMID:
12548288

Details of each submission

From OMIM, SCV000023459.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 39-year-old Belgian woman with Hermansky-Pudlak syndrome (HPS6; 614075), Zhang et al. (2003) identified homozygosity for a 4-bp deletion (TCTG) at codons cys571 to leu572 of the HPS6 gene. The mutation resulted in a frameshift with truncation of the nonsense polypeptide at codon 610, causing loss of 30% of the protein at the C terminus.

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

From GeneReviews, SCV000041509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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