NM_006432.5(NPC2):c.191-187_191-186insTTG AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 6, 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:: RCV001569729.3

Allele description [Variation Report for NM_006432.5(NPC2):c.191-187_191-186insTTG]

NM_006432.5(NPC2):c.191-187_191-186insTTG

Gene:

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

Variant type:

Insertion

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_006432.5(NPC2):c.191-187_191-186insTTG

HGVS:

NC_000014.9:g.74484775_74484776insCAA
NG_007117.1:g.13608_13609insGTT
NM_001363688.1:c.191-187_191-186insTTG
NM_001375440.1:c.191-187_191-186insTTG
NM_006432.5:c.191-187_191-186insTTGMANE SELECT
NC_000014.8:g.74951478_74951479insCAA

Links:

dbSNP: rs1555345901

NCBI 1000 Genomes Browser:

rs1555345901

Molecular consequence:

NM_001363688.1:c.191-187_191-186insTTG - intron variant - [Sequence Ontology: SO:0001627]
NM_001375440.1:c.191-187_191-186insTTG - intron variant - [Sequence Ontology: SO:0001627]
NM_006432.5:c.191-187_191-186insTTG - 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
SCV001793862	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Oct 6, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001793862

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Oct 6, 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, SCV001793862.1

#	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

ClinVar

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