NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) AND Microcephaly 17, primary, autosomal recessive

Germline classification:: Uncertain significance (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:: RCV001007851.1

Allele description [Variation Report for NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro)]

NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro)

Gene:

CIT:citron rho-interacting serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.23

Genomic location:

Preferred name:

NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro)

HGVS:

NC_000012.12:g.119752177T>G
NG_029792.1:g.130114A>C
NM_001206999.2:c.2777A>CMANE SELECT
NM_007174.3:c.2651A>C
NP_001193928.1:p.Gln926Pro
NP_009105.1:p.Gln884Pro
NC_000012.11:g.120189982T>G
NM_007174.2:c.2651A>C

Protein change:

Q884P

Links:

dbSNP: rs1593597170

NCBI 1000 Genomes Browser:

rs1593597170

Molecular consequence:

NM_001206999.2:c.2777A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_007174.3:c.2651A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Microcephaly 17, primary, autosomal recessive (MCPH17)
Identifiers:: MONDO: MONDO:0014908; MedGen: C4310723; Orphanet: 2512; OMIM: 617090

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167549	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	no assertion criteria provided	Uncertain significance	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167549

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

no assertion criteria provided

Uncertain significance

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	1	1	not provided	not provided	yes	research

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167549.1

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

Description

Three genes were thought to be involved in this patient's phenotype including homozygous SPEG c.6971T>A, MYOM3 c.1684G>A/c,3534+56G>A compound heterozygous variants and de novo CIT c.2651A/C variant

#	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		1	not provided	1	not provided

Last Updated: Apr 23, 2022

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