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NM_032383.5(HPS3):c.2469A>G (p.Thr823=) AND Hermansky-Pudlak syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 2, 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:
RCV001275848.1

Allele description [Variation Report for NM_032383.5(HPS3):c.2469A>G (p.Thr823=)]

NM_032383.5(HPS3):c.2469A>G (p.Thr823=)

Genes:
HPS3:HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [Gene - OMIM - HGNC]
CP:ceruloplasmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)
HGVS:
  • NC_000003.12:g.149162866A>G
  • NG_009847.1:g.38283A>G
  • NG_011800.3:g.64180T>C
  • NM_001308258.2:c.1974A>G
  • NM_032383.5:c.2469A>GMANE SELECT
  • NP_001295187.1:p.Thr658=
  • NP_115759.2:p.Thr823=
  • LRG_563t1:c.2469A>G
  • LRG_563:g.38283A>G
  • LRG_563p1:p.Thr823=
  • NC_000003.11:g.148880653A>G
  • NG_011800.2:g.64180T>C
  • NM_032383.3:c.2469A>G
  • NM_032383.4:c.2469A>G
  • NR_046371.2:n.2957T>C
Links:
dbSNP: rs370137287
NCBI 1000 Genomes Browser:
rs370137287
Molecular consequence:
  • NR_046371.2:n.2957T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001308258.2:c.1974A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_032383.5:c.2469A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hermansky-Pudlak syndrome (HPS)
Synonyms:
ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS
Identifiers:
MONDO: MONDO:0019312; MedGen: C0079504; OMIM: PS203300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001461426Natera, Inc.
no assertion criteria provided
Likely benign
(May 2, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001461426.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025