NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) AND Epithelial-stromal TGFBI dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 13, 2020
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:: RCV002466395.1

Allele description [Variation Report for NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)]

NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)

Gene:

TGFBI:transforming growth factor beta induced [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)

HGVS:

NC_000005.10:g.136046406C>T
NG_012646.1:g.22512C>T
NM_000358.3:c.370C>TMANE SELECT
NP_000349.1:p.Arg124Cys
NC_000005.9:g.135382095C>T
NM_000358.2:c.370C>T
Q15582:p.Arg124Cys

Protein change:

R124C; ARG124CYS

Links:

UniProtKB: Q15582#VAR_005076; OMIM: 601692.0003; dbSNP: rs121909210

NCBI 1000 Genomes Browser:

rs121909210

Molecular consequence:

NM_000358.3:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epithelial-stromal TGFBI dystrophy
Identifiers:: MONDO: MONDO:0000764; MedGen: CN322643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001981633	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 13, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001981633

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 13, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetics and Molecular Pathology, SA Pathology, SCV001981633.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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