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NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 17, 2018
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:
RCV002356351.2

Allele description [Variation Report for NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)]

NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)

Genes:
LOC106780803:tenascin XB recombination region [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.12170A>T (p.Asn4057Ile)
HGVS:
  • NC_000006.12:g.32042495T>A
  • NG_007941.3:g.9191T>A
  • NG_008337.2:g.71880A>T
  • NG_045227.1:g.988T>A
  • NM_001365276.2:c.12170A>TMANE SELECT
  • NM_019105.8:c.12164A>T
  • NM_032470.4:c.1457A>T
  • NP_001352205.1:p.Asn4057Ile
  • NP_061978.6:p.Asn4055Ile
  • NP_115859.2:p.Asn486Ile
  • LRG_829:g.9191T>A
  • NC_000006.11:g.32010272T>A
  • NM_019105.6:c.12164A>T
Protein change:
N4055I
Links:
dbSNP: rs17421133
NCBI 1000 Genomes Browser:
rs17421133
Molecular consequence:
  • NM_001365276.2:c.12170A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_019105.8:c.12164A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032470.4:c.1457A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002660482Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Dec 17, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002660482.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024