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NM_003238.6(TGFB2):c.78A>G (p.Thr26=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 14, 2021
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:
RCV002412363.2

Allele description [Variation Report for NM_003238.6(TGFB2):c.78A>G (p.Thr26=)]

NM_003238.6(TGFB2):c.78A>G (p.Thr26=)

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.78A>G (p.Thr26=)
HGVS:
  • NC_000001.11:g.218346779A>G
  • NG_027721.2:g.6446A>G
  • NG_027721.3:g.6445A>G
  • NM_001135599.4:c.78A>G
  • NM_003238.6:c.78A>GMANE SELECT
  • NP_001129071.1:p.Thr26=
  • NP_003229.1:p.Thr26=
  • NC_000001.10:g.218520121A>G
  • NM_003238.3:c.78A>G
  • NR_138148.2:n.1444A>G
  • NR_138149.2:n.1444A>G
Molecular consequence:
  • NR_138148.2:n.1444A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_138149.2:n.1444A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001135599.4:c.78A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003238.6:c.78A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002675631Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 14, 2021) 		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, SCV002675631.2

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

Description

This alteration is classified as likely 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: May 1, 2024