NM_173630.4(RTTN):c.2885+8A>G AND Primary microcephaly

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 8, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000203563.1

Allele description

NM_173630.4(RTTN):c.2885+8A>G

Gene:

RTTN:rotatin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q22.2

Genomic location:

Preferred name:

NM_173630.4(RTTN):c.2885+8A>G

HGVS:

NC_000018.10:g.70135176T>C
NG_033104.1:g.75551A>G
NM_001318520.2:c.149+8A>G
NM_173630.4:c.2885+8A>GMANE SELECT
NC_000018.9:g.67802412T>C
NM_173630.3:c.2885+8A>G

Nucleotide change:

IVS23DS, A-G, +8

Links:

OMIM: 610436.0003; dbSNP: rs864321620

NCBI 1000 Genomes Browser:

rs864321620

Molecular consequence:

NM_001318520.2:c.149+8A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_173630.4:c.2885+8A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Primary microcephaly
Synonyms:: Congenital microcephaly
Identifiers:: MedGen: C2677180; Human Phenotype Ontology: HP:0011451

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258542	Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre	criteria provided, single submitter (Submitter's publication)	Likely pathogenic (Mar 8, 2014)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258542

Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre

criteria provided, single submitter

(Submitter's publication)

Likely pathogenic
(Mar 8, 2014)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	research

Citations

PubMed

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R; Care4Rare Canada Consortium., Majewski J, Bernier FP, Alkuraya FS.

Am J Hum Genet. 2015 Dec 3;97(6):862-8. doi: 10.1016/j.ajhg.2015.10.012. Epub 2015 Nov 19.

PubMed [citation]

PMID:: 26608784
PMCID:: PMC4678428

Details of each submission

From Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre, SCV000258542.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Mar 11, 2023

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