NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001567050.3

Allele description [Variation Report for NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)]

NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)

Gene:
CEP41:centrosomal protein 41 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.2
Genomic location:
Preferred name:
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
HGVS:
  • NC_000007.14:g.130440947A>G
  • NG_032164.2:g.5264T>C
  • NM_001257158.2:c.20T>C
  • NM_001257159.2:c.20T>C
  • NM_001257160.2:c.20T>C
  • NM_018718.3:c.20T>CMANE SELECT
  • NP_001244087.1:p.Ile7Thr
  • NP_001244088.1:p.Ile7Thr
  • NP_001244089.1:p.Ile7Thr
  • NP_061188.1:p.Ile7Thr
  • NC_000007.13:g.130080788A>G
  • NC_000007.13:g.130080788A>G
  • NM_018718.2:c.20T>C
  • NR_046443.2:n.70T>C
Protein change:
I7T
Links:
dbSNP: rs147494464
NCBI 1000 Genomes Browser:
rs147494464
Molecular consequence:
  • NM_001257158.2:c.20T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257159.2:c.20T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257160.2:c.20T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018718.3:c.20T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046443.2:n.70T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001790669GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 8, 2020)
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 GeneDx, SCV001790669.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 24, 2021

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