NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile) AND Cataract 6 multiple types

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2009
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:: RCV000014169.18

Allele description [Variation Report for NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile)]

NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile)

Gene:

EPHA2:EPH receptor A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile)

HGVS:

NC_000001.11:g.16129440G>A
NG_021396.1:g.31648C>T
NM_001329090.2:c.2657C>T
NM_004431.5:c.2819C>TMANE SELECT
NP_001316019.1:p.Thr886Ile
NP_004422.2:p.Thr940Ile
NC_000001.10:g.16455935G>A
P29317:p.Thr940Ile

Protein change:

T886I; THR940ILE

Links:

UniProtKB: P29317#VAR_058907; OMIM: 176946.0002; dbSNP: rs137853200

NCBI 1000 Genomes Browser:

rs137853200

Molecular consequence:

NM_001329090.2:c.2657C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004431.5:c.2819C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cataract 6 multiple types
Synonyms:: Cataract, posterior polar, 1; CATARACT, AGE-RELATED CORTICAL, 2; CATARACT 6, POSTERIOR POLAR; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007288; MedGen: C1861825; Orphanet: 91492; OMIM: 116600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034417	OMIM	no assertion criteria provided	Pathogenic (May 1, 2009)	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

SCV000034417

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2009)

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

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.

Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X.

Hum Mutat. 2009 May;30(5):E603-11. doi: 10.1002/humu.20995.

PubMed [citation]

PMID:: 19306328

Details of each submission

From OMIM, SCV000034417.2

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

Description

In affected members of a 5-generation Han Chinese family with autosomal dominant posterior polar cataract mapping to chromosome 1p36 (CTRCT6; 116600), Zhang et al. (2009) identified heterozygosity for a 2819C-T transition in the EPHA2 gene, resulting in a thr940-to-ile (T940I) substitution at 1 of the 2 residues forming the oligomerization interface in the SAM domain of the receptor. The mutation was not found in unaffected family members or 202 unrelated Chinese controls.

#	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: Feb 25, 2023

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