NM_030665.4(RAI1):c.848_851del (p.Gln283fs) AND Smith-Magenis syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2022
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:: RCV002465004.2

Allele description [Variation Report for NM_030665.4(RAI1):c.848_851del (p.Gln283fs)]

NM_030665.4(RAI1):c.848_851del (p.Gln283fs)

Gene:

RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_030665.4(RAI1):c.848_851del (p.Gln283fs)

HGVS:

NC_000017.11:g.17793796_17793799del
NG_007101.2:g.117324_117327del
NM_030665.4:c.848_851delMANE SELECT
NP_109590.3:p.Gln283fs
NC_000017.10:g.17697110_17697113del

Protein change:

Q283fs

Molecular consequence:

NM_030665.4:c.848_851del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Smith-Magenis syndrome (SMS)
Synonyms:: Chromosome 17p11.2 deletion syndrome
Identifiers:: MONDO: MONDO:0008434; MedGen: C0795864; Orphanet: 819; OMIM: 182290

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002759395	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 8, 2022)	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

SCV002759395

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 8, 2022)

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	yes	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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV002759395.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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