NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly) AND DiGeorge syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 19, 2022
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:: RCV003105676.4

Allele description [Variation Report for NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)]

NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)

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.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)

HGVS:

NC_000022.11:g.19766504_19766512dup
NG_009229.1:g.14802_14810dup
NM_001379200.1:c.1152_1160dupMANE SELECT
NM_005992.1:c.1009+502_1009+510dup
NM_080646.2:c.1009+502_1009+510dup
NM_080647.1:c.1125_1133dup
NP_001366129.1:p.Gly390_Leu391insAlaGlyGly
NP_542378.1:p.Gly381_Leu382insAlaGlyGly
LRG_226t1:c.1125_1133dup
LRG_226:g.14802_14810dup
LRG_226p1:p.Gly381_Leu382insAlaGlyGly
NC_000022.10:g.19754023_19754024insCGGGGCCGG
NC_000022.10:g.19754027_19754035dup

Molecular consequence:

NM_001379200.1:c.1152_1160dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_080647.1:c.1125_1133dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_005992.1:c.1009+502_1009+510dup - intron variant - [Sequence Ontology: SO:0001627]
NM_080646.2:c.1009+502_1009+510dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: DiGeorge syndrome
Synonyms:: Hypoplasia of thymus and parathyroid; Third and fourth pharyngeal pouch syndrome; DiGeorge anomaly; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008564; MedGen: C0012236; Orphanet: 567; OMIM: 188400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003793388	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003793388

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 19, 2022)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003793388.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1125_1133dup, results in the insertion of 3 amino acid(s) of the TBX1 protein (p.Ala379_Gly381dup), but otherwise preserves the integrity of the reading frame.

#	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 20, 2024

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