NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) AND Smith-McCort dysplasia

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000383050.1

Allele description [Variation Report for NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys)]

NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys)

Gene:
RAB33B:RAB33B, member RAS oncogene family [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.1
Genomic location:
Preferred name:
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys)
HGVS:
  • NC_000004.12:g.139472853T>G
  • NG_051587.1:g.24622T>G
  • NM_031296.3:c.417T>G
  • NP_112586.1:p.Asn139Lys
  • NC_000004.11:g.140394007T>G
  • NM_031296.1:c.417T>G
Protein change:
N139K
Links:
dbSNP: rs200448316
NCBI 1000 Genomes Browser:
rs200448316
Molecular consequence:
  • NM_031296.3:c.417T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Smith-McCort dysplasia (SMC1)
Identifiers:
MedGen: C1846431; OMIM: PS607326

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000447499Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000447499.2

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

Last Updated: Nov 2, 2019

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