NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 31, 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:: RCV003552771.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla)]

NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla)

Gene:

TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla)

HGVS:

NC_000017.11:g.61456655CGC[6]
NG_008080.1:g.5210CGC[6]
NM_001321120.2:c.165CGC[6]MANE SELECT
NM_018488.3:c.165CGC[6]
NP_001308049.1:p.Ala60_Glu61insAla
NP_060958.2:p.Ala60_Glu61insAla
LRG_1206t1:c.165CGC[6]
LRG_1206:g.5210CGC[6]
LRG_1206p1:p.Ala60_Glu61insAla
NC_000017.10:g.59534015_59534016insCGC
NC_000017.10:g.59534016CGC[6]

Molecular consequence:

NM_001321120.2:c.165CGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_018488.3:c.165CGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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cytochrome c oxidase subunit I, partial (mitochondrion) [Alloteuthis media]
cytochrome c oxidase subunit I, partial (mitochondrion) [Alloteuthis media]
gi|2329039238|gb|UZN41034.1|

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avrSen1 [Synchytrium endobioticum]
avrSen1 [Synchytrium endobioticum]
gi|2792602221|gb|XEX67035.1|

Protein
U6 snRNA-associated Sm-like protein LSm2 isoform 2 [Rattus norvegicus]
U6 snRNA-associated Sm-like protein LSm2 isoform 2 [Rattus norvegicus]
gi|260064052|ref|NP_001159394.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004265761	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 31, 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

SCV004265761

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 31, 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004265761.1

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

Description

This variant, c.177_179dup, results in the insertion of 1 amino acid(s) of the TBX4 protein (p.Ala60dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TBX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%).

#	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: Sep 29, 2024

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