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NM_003238.6(TGFB2):c.199G>A (p.Val67Met) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 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:
RCV000249446.4

Allele description

NM_003238.6(TGFB2):c.199G>A (p.Val67Met)

Gene:
TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
Other names:
p.V67M:GTG>ATG
HGVS:
  • NC_000001.11:g.218346900G>A
  • NG_027721.2:g.6567G>A
  • NM_001135599.4:c.199G>A
  • NM_003238.6:c.199G>AMANE SELECT
  • NP_001129071.1:p.Val67Met
  • NP_003229.1:p.Val67Met
  • NC_000001.10:g.218520242G>A
  • NM_003238.3:c.199G>A
  • NM_003238.4:c.199G>A
  • NR_138148.2:n.1565G>A
  • NR_138149.2:n.1565G>A
Protein change:
V67M
Links:
dbSNP: rs201761868
NCBI 1000 Genomes Browser:
rs201761868
Molecular consequence:
  • NM_001135599.4:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003238.6:c.199G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_138148.2:n.1565G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_138149.2:n.1565G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319457Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Uncertain significance
(Jan 6, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team., Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

PubMed [citation]
PMID:
29543232
PMCID:
PMC6004315

Details of each submission

From Ambry Genetics, SCV000319457.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.V67M variant (also known as c.199G>A), located in coding exon 1 of the TGFB2 gene, results from a G to A substitution at nucleotide position 199. The valine at codon 67 is replaced by methionine, an amino acid with highly similar properties. This alteration has been detected in a Thoracic Aortic Aneurysm and Dissection (TAAD) cohort (Weerakkody R et al. Genet. Med., 2018 11;20:1414-1422). 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 19, 2022