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NM_030665.4(RAI1):c.840_843del (p.Gln280fs) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 26, 2016
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:
RCV002311765.9

Allele description [Variation Report for NM_030665.4(RAI1):c.840_843del (p.Gln280fs)]

NM_030665.4(RAI1):c.840_843del (p.Gln280fs)

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.840_843del (p.Gln280fs)
HGVS:
  • NC_000017.11:g.17793788_17793791del
  • NG_007101.2:g.117316_117319del
  • NM_030665.4:c.840_843delMANE SELECT
  • NP_109590.3:p.Gln280fs
  • NC_000017.10:g.17697102_17697105del
  • NC_000017.10:g.17697102_17697105delGCAG
  • NM_030665.3:c.840_843del
  • NM_030665.3:c.840_843delGCAG
  • p.Gln280HisfsX83
Protein change:
Q280fs
Links:
dbSNP: rs775735568
NCBI 1000 Genomes Browser:
rs775735568
Molecular consequence:
  • NM_030665.4:c.840_843del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000846559Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Apr 26, 2016) 		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, SCV000846559.5

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

Description

This alteration is classified as 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