NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Feb 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000118828.4

Allele description [Variation Report for NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)]

NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)

Gene:
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.902G>A (p.Arg301Gln)
HGVS:
  • NC_000009.12:g.2643709G>A
  • NG_012741.1:g.26917G>A
  • NM_001018056.3:c.902G>A
  • NM_001322225.2:c.779G>A
  • NM_001322226.2:c.779G>A
  • NM_003383.5:c.902G>AMANE SELECT
  • NP_001018066.1:p.Arg301Gln
  • NP_001309154.1:p.Arg260Gln
  • NP_001309155.1:p.Arg260Gln
  • NP_003374.3:p.Arg301Gln
  • NC_000009.11:g.2643709G>A
  • NM_003383.3:c.902G>A
  • NM_003383.4:c.902G>A
Protein change:
R260Q
Links:
dbSNP: rs139671268
NCBI 1000 Genomes Browser:
rs139671268
Molecular consequence:
  • NM_001018056.3:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322225.2:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322226.2:c.779G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003383.5:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000153475Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Mar 31, 2014)
germlineclinical testing

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

SCV001033121Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 2019)
germlineclinical testing

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

SCV001334932CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Feb 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000153475.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001033121.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001334932.4

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

Last Updated: Aug 17, 2021

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