U.S. flag

An official website of the United States government

NM_030665.4(RAI1):c.600del (p.Leu201fs) AND Syndromic intellectual disability

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 5, 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:
RCV003994771.1

Allele description [Variation Report for NM_030665.4(RAI1):c.600del (p.Leu201fs)]

NM_030665.4(RAI1):c.600del (p.Leu201fs)

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.600del (p.Leu201fs)
HGVS:
  • NC_000017.11:g.17793548del
  • NG_007101.2:g.117076del
  • NG_135747.1:g.641del
  • NM_030665.4:c.600delMANE SELECT
  • NP_109590.3:p.Leu201fs
  • NC_000017.10:g.17696862del
  • NM_030665.4:c.600delTMANE SELECT
Protein change:
L201fs
Molecular consequence:
  • NM_030665.4:c.600del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Syndromic intellectual disability
Synonyms:
Intellectual disability syndrome
Identifiers:
MONDO: MONDO:0000508; MedGen: C5680525

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004812881Molecular Genetics, Royal Melbourne Hospital

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 5, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Molecular Genetics, Royal Melbourne Hospital, SCV004812881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change in RAI1 is a frameshift variant predicted to cause a premature stop codon, p.(Leu201Cysfs*51), in biologically relevant exon 3/6 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism. This variant is absent from the population database gnomAD v2.1 and v3.1. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024