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NM_003383.5(VLDLR):c.24G>A (p.Ala8=) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
May 5, 2015
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:
RCV000118824.12

Allele description [Variation Report for NM_003383.5(VLDLR):c.24G>A (p.Ala8=)]

NM_003383.5(VLDLR):c.24G>A (p.Ala8=)

Genes:
LOC130001468:ATAC-STARR-seq lymphoblastoid silent region 19733 [Gene]
VLDLR-AS1:VLDLR antisense RNA 1 [Gene - HGNC]
VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.2
Genomic location:
Preferred name:
NM_003383.5(VLDLR):c.24G>A (p.Ala8=)
HGVS:
  • NC_000009.12:g.2622213G>A
  • NG_012741.1:g.5421G>A
  • NM_001018056.3:c.24G>A
  • NM_001322225.2:c.24G>A
  • NM_001322226.2:c.24G>A
  • NM_003383.5:c.24G>AMANE SELECT
  • NP_001018066.1:p.Ala8=
  • NP_001309154.1:p.Ala8=
  • NP_001309155.1:p.Ala8=
  • NP_003374.3:p.Ala8=
  • NC_000009.11:g.2622213G>A
  • NM_003383.3:c.24G>A
  • NM_003383.4:c.24G>A
  • NR_015375.2:n.161C>T
Links:
dbSNP: rs34336270
NCBI 1000 Genomes Browser:
rs34336270
Molecular consequence:
  • NR_015375.2:n.161C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001018056.3:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322225.2:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001322226.2:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003383.5:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000153471Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

SCV000224402Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(May 5, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000153471.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000224402.5

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

Last Updated: Oct 13, 2024