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NM_000195.5(HPS1):c.1397+7_1397+8delinsCT AND not specified

Germline classification:
Benign (1 submission)
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:
RCV000248665.5

Allele description [Variation Report for NM_000195.5(HPS1):c.1397+7_1397+8delinsCT]

NM_000195.5(HPS1):c.1397+7_1397+8delinsCT

Gene:
HPS1:HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
10q24.2
Genomic location:
Preferred name:
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT
HGVS:
  • NC_000010.11:g.98424305_98424306delinsAG
  • NG_009646.1:g.27642_27643delinsCT
  • NM_000195.5:c.1397+7_1397+8delinsCTMANE SELECT
  • NM_001311345.2:c.425+7_425+8delinsCT
  • NM_001322476.2:c.1397+7_1397+8delinsCT
  • NM_001322477.2:c.1397+7_1397+8delinsCT
  • NM_001322478.2:c.1298+7_1298+8delinsCT
  • NM_001322479.2:c.1298+7_1298+8delinsCT
  • NM_001322480.2:c.1136+7_1136+8delinsCT
  • NM_001322481.2:c.1136+7_1136+8delinsCT
  • NM_001322482.2:c.1037+7_1037+8delinsCT
  • NM_001322483.2:c.1028+7_1028+8delinsCT
  • NM_001322484.2:c.1028+7_1028+8delinsCT
  • NM_001322485.2:c.929+7_929+8delinsCT
  • NM_001322487.2:c.425+7_425+8delinsCT
  • NM_001322489.2:c.425+7_425+8delinsCT
  • LRG_562t1:c.1397+7_1397+8delinsCT
  • LRG_562:g.27642_27643delinsCT
  • NC_000010.10:g.100184062_100184063delinsAG
  • NM_000195.3:c.1397+7_1397+8delinsCT
  • NM_000195.4:c.1397+7_1397+8delinsCT
Links:
dbSNP: rs886038270
NCBI 1000 Genomes Browser:
rs886038270
Molecular consequence:
  • NM_000195.5:c.1397+7_1397+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001311345.2:c.425+7_425+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322476.2:c.1397+7_1397+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322477.2:c.1397+7_1397+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322478.2:c.1298+7_1298+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322479.2:c.1298+7_1298+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322480.2:c.1136+7_1136+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322481.2:c.1136+7_1136+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322482.2:c.1037+7_1037+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322483.2:c.1028+7_1028+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322484.2:c.1028+7_1028+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322485.2:c.929+7_929+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322487.2:c.425+7_425+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322489.2:c.425+7_425+8delinsCT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000302924PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000302924.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024