NM_030665.4(RAI1):c.652_654del (p.Thr218del) AND RAI1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004742806.1

Allele description [Variation Report for NM_030665.4(RAI1):c.652_654del (p.Thr218del)]

NM_030665.4(RAI1):c.652_654del (p.Thr218del)

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.652_654del (p.Thr218del)

HGVS:

NC_000017.11:g.17793600_17793602del
NG_007101.2:g.117128_117130del
NG_135747.1:g.693_695del
NM_030665.4:c.652_654delMANE SELECT
NP_109590.3:p.Thr218del
NC_000017.10:g.17696914_17696916del
NM_030665.3:c.652_654delACC

Protein change:

T218del

Molecular consequence:

NM_030665.4:c.652_654del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: RAI1-related disorder
Synonyms:: RAI1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005341536	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Feb 1, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005341536

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Feb 1, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005341536.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The RAI1 c.652_654delACC variant is predicted to result in an in-frame deletion (p.Thr218del). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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