U.S. flag

An official website of the United States government

NM_004612.4(TGFBR1):c.*2092G>T AND Loeys-Dietz syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000319205.5

Allele description [Variation Report for NM_004612.4(TGFBR1):c.*2092G>T]

NM_004612.4(TGFBR1):c.*2092G>T

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.*2092G>T
HGVS:
  • NC_000009.12:g.99151397G>T
  • NG_007461.1:g.51268G>T
  • NM_001130916.3:c.*2092G>T
  • NM_001306210.2:c.*2092G>T
  • NM_004612.4:c.*2092G>TMANE SELECT
  • NC_000009.11:g.101913679G>T
  • NM_004612.2:c.*2092G>T
Links:
dbSNP: rs199545273
NCBI 1000 Genomes Browser:
rs199545273
Molecular consequence:
  • NM_001130916.3:c.*2092G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001306210.2:c.*2092G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004612.4:c.*2092G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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

Recent activity

Clear Turn Off Turn On
  • Indians, South American
    Indians, South American
    Members of indigenous South American populations with pre-colonial contact origins.<br/>
    MeSH
  • Medication Reconciliation
    Medication Reconciliation
    The formal process of obtaining a complete and accurate list of each patient's current home medications including name, dosage, frequency, and route of administration, and com...<br/>Year introduced: 2011
    MeSH
  • Comprehensive Dental Care
    Comprehensive Dental Care
    Providing for the full range of dental health services for diagnosis, treatment, follow-up, and rehabilitation of patients.<br/>Year introduced: 1973
    MeSH
  • Central Asian People
    Central Asian People
    People native to or inhabitants of CENTRAL ASIA including KAZAKHSTAN; KYRGYZSTAN; TAJIKISTAN; TURKMENISTAN and UZBEKISTAN.<br/>Year introduced: 2023
    MeSH
  • HAO1 hydroxyacid oxidase 1 [Canis lupus familiaris]
    HAO1 hydroxyacid oxidase 1 [Canis lupus familiaris]
    Gene ID:485774
    Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000475739Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000475739.2

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

Last Updated: Apr 9, 2023