U.S. flag

An official website of the United States government

NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) AND Smith-Magenis syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 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:
RCV002266099.1

Allele description [Variation Report for NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)]

NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)

Gene:
RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)
HGVS:
  • NC_000017.11:g.17793765C>T
  • NG_007101.2:g.117293C>T
  • NM_030665.4:c.817C>TMANE SELECT
  • NP_109590.3:p.Arg273Cys
  • NC_000017.10:g.17697079C>T
  • NM_030665.3:c.817C>T
Protein change:
R273C
Links:
dbSNP: rs758637644
NCBI 1000 Genomes Browser:
rs758637644
Molecular consequence:
  • NM_030665.4:c.817C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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
SCV002548783New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Aug 20, 2021) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548783.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024