NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) AND Groenouw corneal dystrophy type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2002
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:: RCV000008322.7

Allele description [Variation Report for NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)]

NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)

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>A (p.Arg124Ser)

HGVS:

NC_000005.10:g.136046406C>A
NG_012646.1:g.22512C>A
NM_000358.3:c.370C>AMANE SELECT
NP_000349.1:p.Arg124Ser
NC_000005.9:g.135382095C>A
Q15582:p.Arg124Ser

Protein change:

R124S; ARG124SER

Links:

UniProtKB: Q15582#VAR_012444; OMIM: 601692.0008; dbSNP: rs121909210

NCBI 1000 Genomes Browser:

rs121909210

Molecular consequence:

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

Condition(s)

Name:: Groenouw corneal dystrophy type I (CDGG1)
Synonyms:: GRANULAR CORNEAL DYSTROPHY, TYPE I; Corneal dystrophy punctate or nodular
Identifiers:: MONDO: MONDO:0007377; MedGen: C1641846; Orphanet: 98962; OMIM: 121900

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Homo sapiens Fc receptor like A (FCRLA), transcript variant 1, mRNA
Homo sapiens Fc receptor like A (FCRLA), transcript variant 1, mRNA
gi|1659410779|ref|NM_001184866.2|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028530	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028530

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BIGH3 mutation spectrum in corneal dystrophies.

Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Héon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF.

Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54.

PubMed [citation]

PMID:: 11923233

Details of each submission

From OMIM, SCV000028530.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a family with Groenouw type I corneal dystrophy (CDGG1; 121900), Munier et al. (2002) identified a C-to-A transition at nucleotide 417 in exon 4 of the TGFBI gene, resulting in an arg124-to-ser (R124S) substitution.

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

Last Updated: Dec 17, 2022

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