NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) AND Niemann-Pick disease, type C1

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 25, 2024
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:: RCV001086756.8

Allele description [Variation Report for NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)]

NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)

Gene:

NPC1:NPC intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

Preferred name:

NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)

HGVS:

NC_000018.10:g.23556337C>T
NG_012795.1:g.35281G>A
NM_000271.5:c.1232G>AMANE SELECT
NP_000262.2:p.Arg411Gln
NC_000018.9:g.21136301C>T
NM_000271.4:c.1232G>A

Protein change:

R411Q

Links:

dbSNP: rs77080672

NCBI 1000 Genomes Browser:

rs77080672

Molecular consequence:

NM_000271.5:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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PREDICTED: Rattus norvegicus ubiquitin C-terminal hydrolase L1 (Uchl1), transcri...
PREDICTED: Rattus norvegicus ubiquitin C-terminal hydrolase L1 (Uchl1), transcript variant X1, mRNA
gi|2678894653|ref|XM_063273003.1|

Nucleotide
PREDICTED: Rattus norvegicus ubiquitin C-terminal hydrolase L1 (Uchl1), transcri...
PREDICTED: Rattus norvegicus ubiquitin C-terminal hydrolase L1 (Uchl1), transcript variant X2, mRNA
gi|2678894655|ref|XM_063273004.1|

Nucleotide
DDB1- and CUL4-associated factor 5 [Rattus norvegicus]
DDB1- and CUL4-associated factor 5 [Rattus norvegicus]
gi|291042683|ref|NP_001094188.1|

Protein
ubiquitin carboxyl-terminal hydrolase isozyme L1 isoform X2 [Rattus norvegicus]
ubiquitin carboxyl-terminal hydrolase isozyme L1 isoform X2 [Rattus norvegicus]
gi|2678894656|ref|XP_063129074.1|

Protein
SRX10016435 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001118341	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 25, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001118341

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 25, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001118341.6

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

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

Last Updated: Oct 13, 2024

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