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NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 2020
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:
RCV002423182.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)]

NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)

Gene:
TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)
HGVS:
  • NC_000014.9:g.75963430T>C
  • NG_011715.1:g.23320A>G
  • NM_001329938.2:c.812A>G
  • NM_001329939.2:c.812A>G
  • NM_003239.5:c.812A>GMANE SELECT
  • NP_001316867.1:p.Lys271Arg
  • NP_001316868.1:p.Lys271Arg
  • NP_003230.1:p.Lys271Arg
  • LRG_399t1:c.812A>G
  • LRG_399:g.23320A>G
  • NC_000014.8:g.76429773T>C
  • NM_003239.2:c.812A>G
Protein change:
K271R
Links:
dbSNP: rs2035183279
NCBI 1000 Genomes Browser:
rs2035183279
Molecular consequence:
  • NM_001329938.2:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329939.2:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003239.5:c.812A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002679489Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 28, 2020) 		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, SCV002679489.2

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

Description

The p.K271R variant (also known as c.812A>G), located in coding exon 5 of the TGFB3 gene, results from an A to G substitution at nucleotide position 812. The lysine at codon 271 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024