NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro) AND TNC-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 13, 2019
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:: RCV003920864.2

Allele description [Variation Report for NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro)]

NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro)

Gene:

TNC:tenascin C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.1

Genomic location:

Preferred name:

NM_002160.4(TNC):c.5093G>C (p.Arg1698Pro)

HGVS:

NC_000009.12:g.115046442C>G
NG_029637.1:g.76816G>C
NM_002160.4:c.5093G>CMANE SELECT
NP_002151.2:p.Arg1698Pro
NC_000009.11:g.117808721C>G
NM_002160.3:c.5093G>C

Protein change:

R1698P

Links:

dbSNP: rs61734387

NCBI 1000 Genomes Browser:

rs61734387

Molecular consequence:

NM_002160.4:c.5093G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Homo sapiens methenyltetrahydrofolate synthetase (MTHFS), transcript variant 3, ...
Homo sapiens methenyltetrahydrofolate synthetase (MTHFS), transcript variant 3, non-coding RNA
gi|1890608831|ref|NR_037654.2|

Nucleotide
MAG: Brevundimonas sp. isolate UW_MP_CAUL1_1, whole genome shotgun sequencing pr...
MAG: Brevundimonas sp. isolate UW_MP_CAUL1_1, whole genome shotgun sequencing project
gi|2204190884|gb|JAKVIZ000000000.1| Z010000000

Nucleotide
Kerstersia gyiorum MAG, UW_MP_BURK1_1
Kerstersia gyiorum MAG, UW_MP_BURK1_1

biosample
Chain b, Proteasome subunit beta type-6
Chain b, Proteasome subunit beta type-6
gi|2324451248|pdb|7NAN|b

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004744905	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Jun 13, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004744905

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Jun 13, 2019)

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, SCV004744905.2

#	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 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: Oct 20, 2024

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