NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) AND Microcephaly and chorioretinopathy, autosomal recessive, 1

Clinical significance:Likely benign (Last evaluated: Jun 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000625217.2

Allele description [Variation Report for NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=)]

NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=)

Gene:
TUBGCP6:tubulin gamma complex associated protein 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=)
HGVS:
  • NC_000022.11:g.50218218G>A
  • NG_032160.1:g.31754C>T
  • NM_020461.4:c.5139C>TMANE SELECT
  • NP_065194.3:p.His1713=
  • NC_000022.10:g.50656647G>A
  • NM_020461.3:c.5139C>T
Links:
dbSNP: rs149152116
NCBI 1000 Genomes Browser:
rs149152116
Molecular consequence:
  • NM_020461.4:c.5139C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)
Identifiers:
MONDO: MONDO:0009624; MedGen: C3278481; OMIM: 251270

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000744157Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensuscriteria provided, single submitter
Likely benign
(Jun 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744157.1

#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: Sep 24, 2021

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