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NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) AND Diaphyseal dysplasia

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 5, 2015
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:
RCV000032153.1

Allele description

NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)

Gene:
TGFB1:transforming growth factor beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile)
Other names:
11935C>T
HGVS:
  • NC_000019.10:g.41341955G>A
  • NG_013364.1:g.16972C>T
  • NM_000660.7:c.788C>TMANE SELECT
  • NP_000651.3:p.Thr263Ile
  • NC_000019.9:g.41847860G>A
  • NM_000660.4:c.788C>T
  • NM_000660.5:c.788C>T
Protein change:
T263I
Links:
dbSNP: rs1800472
NCBI 1000 Genomes Browser:
rs1800472
Molecular consequence:
  • NM_000660.7:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Diaphyseal dysplasia (CAEND)
Synonyms:
Diaphyseal dysplasia 1, progressive; Engelmann disease; Progressive diaphyseal dysplasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007542; MedGen: C0011989; Orphanet: 1328; OMIM: 131300; Human Phenotype Ontology: HP:0100252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055719GeneReviews
no assertion criteria provided
Benign
(Mar 5, 2015) 		germlineliterature only

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000055719.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021