NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup) AND TBX1-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 5, 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:: RCV004742658.1

Allele description [Variation Report for NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)]

NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)

Gene:

TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)

HGVS:

NC_000022.11:g.19766720_19766731dup
NG_009229.1:g.15018_15029dup
NM_001379200.1:c.1368_1379dupMANE SELECT
NM_005992.1:c.1009+718_1009+729dup
NM_080646.2:c.1009+718_1009+729dup
NM_080647.1:c.1341_1352dup
NP_001366129.1:p.Ala459_His462dup
NP_542378.1:p.Ala450_His453dup
LRG_226t1:c.1341_1352dup
LRG_226:g.15018_15029dup
LRG_226p1:p.Ala450_His453dup
NC_000022.10:g.19754240_19754241insCACCCGCACGCG
NC_000022.10:g.19754243_19754254dup
NM_080647.1:c.1341_1352dup12
NM_080647.1:c.1341_1352dupCCCGCACGCGCA

Links:

dbSNP: rs774578030

NCBI 1000 Genomes Browser:

rs774578030

Molecular consequence:

NM_001379200.1:c.1368_1379dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_080647.1:c.1341_1352dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_005992.1:c.1009+718_1009+729dup - intron variant - [Sequence Ontology: SO:0001627]
NM_080646.2:c.1009+718_1009+729dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: TBX1-related disorder
Synonyms:: TBX1-related condition; TBX1-Related Disorders
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005354183	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Jul 5, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005354183

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Jul 5, 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, SCV005354183.1

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Feb 25, 2025

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