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NM_030665.4(RAI1):c.514C>T (p.His172Tyr) AND Smith-Magenis syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 19, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001839325.2

Allele description [Variation Report for NM_030665.4(RAI1):c.514C>T (p.His172Tyr)]

NM_030665.4(RAI1):c.514C>T (p.His172Tyr)

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.514C>T (p.His172Tyr)
HGVS:
  • NC_000017.11:g.17793462C>T
  • NG_007101.2:g.116990C>T
  • NM_030665.4:c.514C>TMANE SELECT
  • NP_109590.3:p.His172Tyr
  • NC_000017.10:g.17696776C>T
  • NM_030665.3:c.514C>T
Protein change:
H172Y
Links:
dbSNP: rs143161740
NCBI 1000 Genomes Browser:
rs143161740
Molecular consequence:
  • NM_030665.4:c.514C>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002099322New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Apr 2, 2021) 		inheritedclinical testing

Citation Link,

SCV002776807Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 19, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedinheritedunknown1not providednot provided1not 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 New York Genome Center - CSER-NYCKidSeq, SCV002099322.1

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

From Fulgent Genetics, Fulgent Genetics, SCV002776807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024