NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 30, 2024
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:: RCV004681473.1

Allele description [Variation Report for NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg)]

NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg)

Gene:

TNXB:tenascin XB [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg)

HGVS:

NC_000006.12:g.32046226C>T
NG_008337.2:g.68149G>A
NM_001365276.2:c.10555G>AMANE SELECT
NM_019105.8:c.10549G>A
NP_001352205.1:p.Gly3519Arg
NP_061978.6:p.Gly3517Arg
NC_000006.11:g.32014003C>T
NM_019105.6:c.10549G>A

Protein change:

G3517R

Links:

dbSNP: rs1186193202

NCBI 1000 Genomes Browser:

rs1186193202

Molecular consequence:

NM_001365276.2:c.10555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_019105.8:c.10549G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005178147	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 30, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005178147

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 30, 2024)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV005178147.1

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

Description

The p.G3517R variant (also known as c.10549G>A), located in coding exon 30 of the TNXB gene, results from a G to A substitution at nucleotide position 10549. The glycine at codon 3517 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

#	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 1, 2024

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