NM_173630.4(RTTN):c.725_727dup (p.Gly242dup) AND Microcephalic primordial dwarfism due to RTTN deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 7, 2021
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:: RCV001795946.2

Allele description [Variation Report for NM_173630.4(RTTN):c.725_727dup (p.Gly242dup)]

NM_173630.4(RTTN):c.725_727dup (p.Gly242dup)

Gene:

RTTN:rotatin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q22.2

Genomic location:

Preferred name:

NM_173630.4(RTTN):c.725_727dup (p.Gly242dup)

HGVS:

NC_000018.10:g.70196616_70196618dup
NG_033104.1:g.14110_14112dup
NM_001318520.2:c.-1829_-1827dup
NM_173630.4:c.725_727dupMANE SELECT
NP_775901.3:p.Gly242dup
NC_000018.9:g.67863850_67863851insCTC
NC_000018.9:g.67863852_67863854dup
NM_173630.3:c.725_727dup
NM_173630.3:c.725_727dupGAG

Links:

dbSNP: rs58913700

NCBI 1000 Genomes Browser:

rs58913700

Molecular consequence:

NM_001318520.2:c.-1829_-1827dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_173630.4:c.725_727dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Microcephalic primordial dwarfism due to RTTN deficiency (MSSP)
Synonyms:: Microcephaly, short stature, and polymicrogyria with or without seizures; MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA
Identifiers:: MONDO: MONDO:0018764; MedGen: C3553831; OMIM: 614833

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002032871	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002032871

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Nov 7, 2021)

germline

clinical testing

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	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002032871.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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