NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) AND Microcephaly and chorioretinopathy, autosomal recessive, 1

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001535501.1

Allele description [Variation Report for NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)]

NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)

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.589T>C (p.Ser197Pro)
HGVS:
  • NC_000022.11:g.50243871A>G
  • NG_029758.1:g.12535T>C
  • NG_032160.1:g.6101T>C
  • NM_020461.4:c.589T>CMANE SELECT
  • NP_065194.3:p.Ser197Pro
  • NC_000022.10:g.50682300A>G
  • NM_020461.3:c.589T>C
Protein change:
S197P
Links:
dbSNP: rs138586345
NCBI 1000 Genomes Browser:
rs138586345
Molecular consequence:
  • NM_020461.4:c.589T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001749454GenomeConnect - Invitae Patient Insights Networkno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749454.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 11-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Oct 6, 2021

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