NM_004612.4(TGFBR1):c.487del (p.Asp163fs) AND Loeys-Dietz syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 19, 2023
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:: RCV003485685.2

Allele description [Variation Report for NM_004612.4(TGFBR1):c.487del (p.Asp163fs)]

NM_004612.4(TGFBR1):c.487del (p.Asp163fs)

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.487del (p.Asp163fs)

HGVS:

NC_000009.12:g.99132652del
NG_007461.1:g.32523del
NM_001130916.3:c.343+3552del
NM_001306210.2:c.499del
NM_004612.4:c.487delMANE SELECT
NP_001293139.1:p.Asp167fs
NP_004603.1:p.Asp163fs
NC_000009.11:g.101894934del

Protein change:

D163fs

Links:

dbSNP: rs1827276619

NCBI 1000 Genomes Browser:

rs1827276619

Molecular consequence:

NM_001306210.2:c.499del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004612.4:c.487del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001130916.3:c.343+3552del - intron variant - [Sequence Ontology: SO:0001627]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004238757	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 19, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004238757

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 19, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV004238757.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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