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NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) AND Diaphyseal dysplasia

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 2021
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:
RCV001838525.11

Allele description [Variation Report for NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)]

NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)

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.29C>T (p.Pro10Leu)
Other names:
L10P
HGVS:
  • NC_000019.10:g.41353016G>A
  • NG_013091.1:g.16158C>T
  • NG_013364.1:g.5911C>T
  • NM_000660.7:c.29C>TMANE SELECT
  • NP_000651.3:p.Pro10Leu
  • NC_000019.9:g.41858921G>A
  • NM_000660.5:c.29C>T
  • NP_000651.3:p.Leu10Pro
Protein change:
P10L; LEU10PRO
Links:
OMIM: 190180.0007; dbSNP: rs1800470
NCBI 1000 Genomes Browser:
rs1800470
Molecular consequence:
  • NM_000660.7:c.29C>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
SCV002098909Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV002098909.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024