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NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) AND Loeys-Dietz syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001280800.2

Allele description [Variation Report for NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)]

NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)

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.827T>C (p.Leu276Pro)
HGVS:
  • NC_000009.12:g.99142557T>C
  • NG_007461.1:g.42428T>C
  • NM_001130916.3:c.596T>C
  • NM_001306210.2:c.839T>C
  • NM_004612.4:c.827T>CMANE SELECT
  • NP_001124388.1:p.Leu199Pro
  • NP_001293139.1:p.Leu280Pro
  • NP_004603.1:p.Leu276Pro
  • NC_000009.11:g.101904839T>C
  • NM_004612.2:c.827T>C
Protein change:
L199P
Links:
dbSNP: rs1827646767
NCBI 1000 Genomes Browser:
rs1827646767
Molecular consequence:
  • NM_001130916.3:c.596T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306210.2:c.839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004612.4:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Loeys-Dietz syndrome 1 (LDS1)
Synonyms:
Loeys-Dietz syndrome type 1A; Furlong syndrome; Aortic aneurysm syndrome, Loeys-Dietz type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012212; MedGen: C4551955; Orphanet: 60030; OMIM: 609192

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001468134Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Likely pathogenic
(Jun 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV001468134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023