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NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 14, 2019
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:
RCV002311727.9

Allele description [Variation Report for NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)]

NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)

Gene:
RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
HGVS:
  • NC_000017.11:g.17793782GCA[6]
  • NG_007101.2:g.117310GCA[6]
  • NM_030665.4:c.834GCA[6]MANE SELECT
  • NP_109590.3:p.Gln285_Gln291del
  • NC_000017.10:g.17697094_17697114del
  • NC_000017.10:g.17697096GCA[6]
  • NM_030665.3:c.852_872del
  • NM_030665.3:c.852_872del21
Links:
dbSNP: rs371983878
NCBI 1000 Genomes Browser:
rs371983878
Molecular consequence:
  • NM_030665.4:c.834GCA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846579Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 14, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.

PubMed [citation]
PMID:
17041942

Retinoic acid induced 1 gene and clinical subtypes of schizophrenia: an association study.

Ivković M, Zamurović L, Jovanović A, Dobričić V, Damjanović A, Savić-Pavićević D, Romac S.

Psychiatry Res. 2011 Jul 30;188(2):297-8. doi: 10.1016/j.psychres.2010.11.018. Epub 2010 Dec 17. No abstract available.

PubMed [citation]
PMID:
21168224
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000846579.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024