NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) AND Hermansky-Pudlak syndrome 6

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 13, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001290774.1

Allele description [Variation Report for NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)]

NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)

Gene:

HPS6:HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

Preferred name:

NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)

HGVS:

NC_000010.11:g.102067206C>T
NG_012029.1:g.6817C>T
NM_024747.6:c.1732C>TMANE SELECT
NP_079023.2:p.Arg578Ter
LRG_564:g.6817C>T
NC_000010.10:g.103826963C>T

Protein change:

R578*

Links:

dbSNP: rs940319528

NCBI 1000 Genomes Browser:

rs940319528

Molecular consequence:

NM_024747.6:c.1732C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478885	Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	no assertion criteria provided	Likely pathogenic (Nov 13, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001478885

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

no assertion criteria provided

Likely pathogenic
(Nov 13, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, SCV001478885.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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