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NM_003239.5(TGFB3):c.351C>T (p.His117=) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 25, 2016
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:
RCV002313136.9

Allele description [Variation Report for NM_003239.5(TGFB3):c.351C>T (p.His117=)]

NM_003239.5(TGFB3):c.351C>T (p.His117=)

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.351C>T (p.His117=)
HGVS:
  • NC_000014.9:g.75980543G>A
  • NG_011715.1:g.6207C>T
  • NM_001329938.2:c.351C>T
  • NM_001329939.2:c.351C>T
  • NM_003239.5:c.351C>TMANE SELECT
  • NP_001316867.1:p.His117=
  • NP_001316868.1:p.His117=
  • NP_003230.1:p.His117=
  • LRG_399t1:c.351C>T
  • LRG_399:g.6207C>T
  • NC_000014.8:g.76446886G>A
  • NM_003239.2:c.351C>T
  • NM_003239.3:c.351C>T
Links:
dbSNP: rs375232060
NCBI 1000 Genomes Browser:
rs375232060
Molecular consequence:
  • NM_001329938.2:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001329939.2:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003239.5:c.351C>T - 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
SCV000739715Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 25, 2016) 		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, SCV000739715.5

#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: Nov 3, 2024