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NM_004612.4(TGFBR1):c.847_849del (p.His283del) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 2022
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:
RCV002442609.1

Allele description

NM_004612.4(TGFBR1):c.847_849del (p.His283del)

Gene:
TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q22.33
Genomic location:
Preferred name:
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
HGVS:
  • NC_000009.12:g.99142577_99142579del
  • NG_007461.1:g.42448_42450del
  • NM_001130916.3:c.616_618del
  • NM_001306210.2:c.859_861del
  • NM_004612.4:c.847_849delMANE SELECT
  • NP_001124388.1:p.His206del
  • NP_001293139.1:p.His287del
  • NP_004603.1:p.His283del
  • NC_000009.11:g.101904859_101904861del
  • NM_004612.2:c.847_849delCAT
  • NM_004612.3:c.847_849del
  • NM_004612.3:c.847_849delCAT
Protein change:
H206del
Links:
dbSNP: rs1588590301
NCBI 1000 Genomes Browser:
rs1588590301
Molecular consequence:
  • NM_001130916.3:c.616_618del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001306210.2:c.859_861del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004612.4:c.847_849del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002676705Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Sep 8, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002676705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.847_849delCAT variant (also known as p.H283del) is located in coding exon 5 of the TGFBR1 gene. This variant results from an in-frame CAT deletion at nucleotide positions 847 to 849. This results in the in-frame deletion of a histidine at codon 283. This amino acid position is highly conserved in available vertebrate species. 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: Jun 24, 2023