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NM_000271.5(NPC1):c.425_428del (p.Lys142fs) AND Niemann-Pick disease, type C1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 18, 2017
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:
RCV000670077.1

Allele description [Variation Report for NM_000271.5(NPC1):c.425_428del (p.Lys142fs)]

NM_000271.5(NPC1):c.425_428del (p.Lys142fs)

Gene:
NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_000271.5(NPC1):c.425_428del (p.Lys142fs)
HGVS:
  • NC_000018.10:g.23568860_23568863del
  • NG_012795.1:g.22757_22760del
  • NM_000271.5:c.425_428delMANE SELECT
  • NP_000262.2:p.Lys142fs
  • NC_000018.9:g.21148824_21148827del
  • NM_000271.4:c.425_428delAAGA
Protein change:
K142fs
Links:
dbSNP: rs770580241
NCBI 1000 Genomes Browser:
rs770580241
Molecular consequence:
  • NM_000271.5:c.425_428del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Niemann-Pick disease, type C1
Synonyms:
NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; Niemann-Pick disease with cholesterol esterification block; Niemann-Pick disease, chronic neuronopathic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009757; MedGen: C3179455; Orphanet: 646; OMIM: 257220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794893Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Oct 18, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):220-32.

PubMed [citation]
PMID:
16126423

Details of each submission

From Counsyl, SCV000794893.1

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

Last Updated: Jun 7, 2022