NM_000660.7(TGFB1):c.505G>C (p.Glu169Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2022
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:: RCV002591026.3

Allele description [Variation Report for NM_000660.7(TGFB1):c.505G>C (p.Glu169Gln)]

NM_000660.7(TGFB1):c.505G>C (p.Glu169Gln)

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.505G>C (p.Glu169Gln)

HGVS:

NC_000019.10:g.41348306C>G
NG_013364.1:g.10621G>C
NM_000660.7:c.505G>CMANE SELECT
NP_000651.3:p.Glu169Gln
NC_000019.9:g.41854211C>G

Protein change:

E169Q

Molecular consequence:

NM_000660.7:c.505G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002952060	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 18, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17433803, 29230158, 29620655, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002952060

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 18, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.

Wu S, Liang S, Yan Y, Wang Y, Li F, Deng Y, Huang W, Yuan W, Luo N, Zhu C, Wang Y, Li Y, Liu M, Wu X.

Bone. 2007 Jun;40(6):1630-4. Epub 2007 Mar 6.

PubMed [citation]

PMID:: 17433803

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease.

Baroncelli GI, Ferretti E, Pini CM, Toschi B, Consolini R, Bertelloni S.

Mol Syndromol. 2017 Nov;8(6):294-302. doi: 10.1159/000479859. Epub 2017 Sep 9.

PubMed [citation]

PMID:: 29230158
PMCID:: PMC5701277

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002952060.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 169 of the TGFB1 protein (p.Glu169Gln). This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Glu169 amino acid residue in TGFB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17433803, 29230158, 29620655). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TGFB1-related conditions.

#	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: Sep 29, 2024

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