NM_006432.5(NPC2):c.442-4A>C AND not specified

Clinical significance:Benign (Last evaluated: May 21, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000178919.2

Allele description [Variation Report for NM_006432.5(NPC2):c.442-4A>C]

NM_006432.5(NPC2):c.442-4A>C

Gene:
NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_006432.5(NPC2):c.442-4A>C
HGVS:
  • NC_000014.9:g.74480292T>G
  • NG_007117.1:g.18090A>C
  • NM_001363688.1:c.*326A>C
  • NM_001375440.1:c.364-4A>C
  • NM_006432.5:c.442-4A>CMANE SELECT
  • NC_000014.8:g.74946995T>G
  • NM_006432.3:c.442-4A>C
  • NM_006432.4:c.442-4A>C
Links:
dbSNP: rs114950106
NCBI 1000 Genomes Browser:
rs114950106
Molecular consequence:
  • NM_001363688.1:c.*326A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001375440.1:c.364-4A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006432.5:c.442-4A>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000231099EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(May 21, 2014)
germlineclinical testing

Citation Link,

SCV001917121Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231099.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001917121.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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