NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) AND Joubert syndrome 1

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000416431.1

Allele description [Variation Report for NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)]

NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)

Gene:

MICALL2:MICAL like 2 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.3

Genomic location:

Preferred name:

NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)

HGVS:

NC_000007.14:g.1445219G>C
NM_182924.4:c.851C>GMANE SELECT
NP_891554.1:p.Pro284Arg
NC_000007.13:g.1484855G>C
NM_182924.3:c.851C>G

Protein change:

P284R

Links:

dbSNP: rs556808514

NCBI 1000 Genomes Browser:

rs556808514

Molecular consequence:

NM_182924.4:c.851C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Joubert syndrome 1 (JBTS1)
Synonyms:: Cerebellooculorenal syndrome 1
Identifiers:: MONDO: MONDO:0008944; MedGen: C4551568; OMIM: 213300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494167	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Pathogenic	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494167

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

no assertion criteria provided

Pathogenic

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000494167.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

Description

This variant was identified in an individual with a clinical diagnosis of Joubert syndrome.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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