NM_152906.7(TANGO2):c.508G>A (p.Gly170Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 29, 2021
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:: RCV002015032.6

Allele description [Variation Report for NM_152906.7(TANGO2):c.508G>A (p.Gly170Arg)]

NM_152906.7(TANGO2):c.508G>A (p.Gly170Arg)

Gene:

TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_152906.7(TANGO2):c.508G>A (p.Gly170Arg)

HGVS:

NC_000022.11:g.20061586G>A
NG_046857.1:g.49587G>A
NM_001283106.3:c.508G>A
NM_001283116.3:c.508G>A
NM_001283129.3:c.631G>A
NM_001283148.3:c.508G>A
NM_001283154.3:c.508G>A
NM_001283179.3:c.322G>A
NM_001283186.3:c.322G>A
NM_001283199.3:c.381-1752G>A
NM_001283215.3:c.575-2956G>A
NM_001283235.3:c.214G>A
NM_001283248.3:c.266-1752G>A
NM_001322141.2:c.631G>A
NM_001322142.2:c.508G>A
NM_001322143.2:c.631G>A
NM_001322144.2:c.631G>A
NM_001322145.2:c.445G>A
NM_001322146.2:c.406G>A
NM_001322147.2:c.445G>A
NM_001322148.2:c.406G>A
NM_001322149.2:c.504-1752G>A
NM_001322150.2:c.214G>A
NM_001322153.2:c.214G>A
NM_001322155.2:c.214G>A
NM_001322160.2:c.406G>A
NM_001322163.2:c.322G>A
NM_001322166.2:c.322G>A
NM_001322167.2:c.322G>A
NM_001322169.2:c.322G>A
NM_001322171.2:c.214G>A
NM_001322172.2:c.214G>A
NM_001322173.2:c.214G>A
NM_001322174.2:c.214G>A
NM_001322175.2:c.214G>A
NM_152906.7:c.508G>AMANE SELECT
NP_001270035.1:p.Gly170Arg
NP_001270045.1:p.Gly170Arg
NP_001270058.1:p.Gly211Arg
NP_001270077.1:p.Gly170Arg
NP_001270083.1:p.Gly170Arg
NP_001270108.1:p.Gly108Arg
NP_001270115.1:p.Gly108Arg
NP_001270164.1:p.Gly72Arg
NP_001309070.1:p.Gly211Arg
NP_001309071.1:p.Gly170Arg
NP_001309072.1:p.Gly211Arg
NP_001309073.1:p.Gly211Arg
NP_001309074.1:p.Gly149Arg
NP_001309075.1:p.Gly136Arg
NP_001309076.1:p.Gly149Arg
NP_001309077.1:p.Gly136Arg
NP_001309079.1:p.Gly72Arg
NP_001309082.1:p.Gly72Arg
NP_001309084.1:p.Gly72Arg
NP_001309089.1:p.Gly136Arg
NP_001309092.1:p.Gly108Arg
NP_001309095.1:p.Gly108Arg
NP_001309096.1:p.Gly108Arg
NP_001309098.1:p.Gly108Arg
NP_001309100.1:p.Gly72Arg
NP_001309101.1:p.Gly72Arg
NP_001309102.1:p.Gly72Arg
NP_001309103.1:p.Gly72Arg
NP_001309104.1:p.Gly72Arg
NP_690870.3:p.Gly170Arg
NC_000022.10:g.20049109G>A
NR_136206.2:n.498G>A
NR_136211.2:n.684G>A
NR_136212.1:n.605G>A

Protein change:

G108R

Links:

dbSNP: rs1568917900

NCBI 1000 Genomes Browser:

rs1568917900

Molecular consequence:

NM_001283199.3:c.381-1752G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001283215.3:c.575-2956G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001283248.3:c.266-1752G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001322149.2:c.504-1752G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001283106.3:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283116.3:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283129.3:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283148.3:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283154.3:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283179.3:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283186.3:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001283235.3:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322141.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322142.2:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322143.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322144.2:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322145.2:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322146.2:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322147.2:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322148.2:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322150.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322153.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322155.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322160.2:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322163.2:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322166.2:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322167.2:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322169.2:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322171.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322172.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322173.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322174.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001322175.2:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152906.7:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_136206.2:n.498G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136211.2:n.684G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_136212.1:n.605G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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unconventional myosin-Vb [Rattus norvegicus]
unconventional myosin-Vb [Rattus norvegicus]
gi|8393817|ref|NP_058779.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002285501	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 29, 2021)	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

SCV002285501

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 29, 2021)

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, SCV002285501.3

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

Description

This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with TANGO2-related conditions. This sequence change replaces glycine with arginine at codon 170 of the TANGO2 protein (p.Gly170Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

#	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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