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NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser) AND Loeys-Dietz syndrome 4

Germline classification:
Uncertain significance (1 submission)
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:
RCV000656710.1

Allele description [Variation Report for NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)]

NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)

Gene:
TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)
HGVS:
  • NC_000001.11:g.218441349G>C
  • NG_027721.2:g.101016G>C
  • NM_001135599.4:c.1316G>C
  • NM_003238.6:c.1232G>CMANE SELECT
  • NP_001129071.1:p.Cys439Ser
  • NP_003229.1:p.Cys411Ser
  • NC_000001.10:g.218614691G>C
  • NM_003238.4:c.1232G>C
  • NR_138148.2:n.2483G>C
  • NR_138149.2:n.2567G>C
Protein change:
C411S
Links:
dbSNP: rs1553303761
NCBI 1000 Genomes Browser:
rs1553303761
Molecular consequence:
  • NM_001135599.4:c.1316G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003238.6:c.1232G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_138148.2:n.2483G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_138149.2:n.2567G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Loeys-Dietz syndrome 4 (LDS4)
Synonyms:
ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
Identifiers:
MONDO: MONDO:0013897; MedGen: C3553762; OMIM: 614816

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000777902Institute of Human Genetics, Cologne University
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000777902.1

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

Last Updated: Apr 23, 2022