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NM_030665.4(RAI1):c.514C>T (p.His172Tyr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 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:
RCV002334717.2

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]

Condition(s)

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

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002641056Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 14, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002641056.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.H172Y variant (also known as c.514C>T), located in coding exon 1 of the RAI1 gene, results from a C to T substitution at nucleotide position 514. The histidine at codon 172 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024