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NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 31, 2015
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:
RCV004023474.1

Allele description [Variation Report for NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)]

NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)

Gene:
TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)
HGVS:
  • NC_000009.12:g.99105267C>T
  • NG_007461.1:g.5138C>T
  • NM_001130916.3:c.62C>T
  • NM_001306210.2:c.62C>T
  • NM_004612.4:c.62C>TMANE SELECT
  • NP_001124388.1:p.Ala21Val
  • NP_001293139.1:p.Ala21Val
  • NP_004603.1:p.Ala21Val
  • NC_000009.11:g.101867549C>T
  • NM_004612.2:c.62C>T
Protein change:
A21V
Links:
dbSNP: rs1554695407
NCBI 1000 Genomes Browser:
rs1554695407
Molecular consequence:
  • NM_001130916.3:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306210.2:c.62C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004612.4:c.62C>T - 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
SCV000738436Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 31, 2015) 		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, SCV000738436.4

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

Description

The p.A21V variant (also known as c.62C>T), located in coding exon 1 of the TGFBR1 gene, results from a C to T substitution at nucleotide position 62. The alanine at codon 21 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 154 samples (308 alleles) with coverage at this position. This amino acid position is highly conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Nov 24, 2024