NM_004560.3(ROR2):c.2455G>A (p.Val819Ile) AND not specified

Clinical significance:Conflicting interpretations of pathogenicity, Benign(2);Likely benign(1) (Last evaluated: Apr 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000147389.4

Allele description

NM_004560.3(ROR2):c.2455G>A (p.Val819Ile)

Gene:
ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.31
Genomic location:
Preferred name:
NM_004560.3(ROR2):c.2455G>A (p.Val819Ile)
HGVS:
  • NC_000009.12:g.91724039C>T
  • NG_008089.1:g.231124G>A
  • NM_004560.3:c.2455G>A
  • NP_004551.2:p.Val819Ile
  • NC_000009.11:g.94486321C>T
  • NM_004560.2:c.2455G>A
  • Q01974:p.Val819Ile
Protein change:
V819I
Links:
UniProtKB: Q01974#VAR_010913; dbSNP: rs10761129
GMAF:
0.2520(C), 10761129
NCBI 1000 Genomes Browser:
rs10761129
Molecular consequence:
  • NM_004560.3:c.2455G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
13

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
SCV000194766Genetic Services Laboratory, University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000233078Emory Genetics Laboratory,Emory Universitycriteria provided, single submitter
Benign
(Apr 13, 2016)
germlineclinical testing

Citation Link,

SCV000310465PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

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

SCV000194766

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown13not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000194766.1

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

From Emory Genetics Laboratory,Emory University, SCV000233078.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided13not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided13not providednot providednot provided

From PreventionGenetics, SCV000310465.1

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

Last Updated: Dec 6, 2016