NM_030665.4(RAI1):c.2329del (p.Asp777fs) AND Smith-Magenis syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 11, 2023
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:: RCV003227542.2

Allele description [Variation Report for NM_030665.4(RAI1):c.2329del (p.Asp777fs)]

NM_030665.4(RAI1):c.2329del (p.Asp777fs)

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.2329del (p.Asp777fs)

HGVS:

NC_000017.11:g.17795277del
NG_007101.2:g.118805del
NM_030665.4:c.2329delMANE SELECT
NP_109590.3:p.Asp777fs
NC_000017.10:g.17698591del

Protein change:

D777fs

Molecular consequence:

NM_030665.4:c.2329del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV003924048	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (Hauer et al. (Genet Med. 2018))	Pathogenic (May 11, 2023)	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

SCV003924048

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

criteria provided, single submitter

(Hauer et al. (Genet Med. 2018))

Pathogenic
(May 11, 2023)

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	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, et al.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

PubMed [citation]

PMID:: 29758562
PMCID:: PMC5993671

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV003924048.1

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

Description

This variant has been identified by standard clinical testing. de novo; ACMG: PVS1, PS2, PM2 Selected ACMG criteria: Pathogenic (I):PM2;PS2;PVS1

#	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		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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