NM_006432.5(NPC2):c.441+193dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 26, 2019
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:: RCV001577953.3

Allele description [Variation Report for NM_006432.5(NPC2):c.441+193dup]

NM_006432.5(NPC2):c.441+193dup

Gene:

NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_006432.5(NPC2):c.441+193dup

HGVS:

NC_000014.9:g.74480509dup
NG_007117.1:g.17884dup
NM_001363688.1:c.*120dup
NM_001375440.1:c.364-221dup
NM_006432.5:c.441+193dupMANE SELECT
NC_000014.8:g.74947212dup

Links:

dbSNP: rs373421076

NCBI 1000 Genomes Browser:

rs373421076

Molecular consequence:

NM_001363688.1:c.*120dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001375440.1:c.364-221dup - intron variant - [Sequence Ontology: SO:0001627]
NM_006432.5:c.441+193dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001805452	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 26, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001805452

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 26, 2019)

germline

clinical testing

Citation Link

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 GeneDx, SCV001805452.1

#	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: Dec 24, 2023

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