NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg) AND Aniridia 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 27, 2024
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:: RCV000254593.2

Allele description [Variation Report for NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)]

NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)

Gene:

TRIM44:tripartite motif containing 44 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

Preferred name:

NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)

HGVS:

NC_000011.10:g.35663574G>A
NG_052784.1:g.5883G>A
NM_017583.6:c.463G>AMANE SELECT
NP_060053.2:p.Gly155Arg
NC_000011.9:g.35685122G>A
NM_017583.4:c.463G>A

Protein change:

G155R; GLY155ARG

Links:

OMIM: 612298.0001; dbSNP: rs886039241

NCBI 1000 Genomes Browser:

rs886039241

Molecular consequence:

NM_017583.6:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Aniridia 3 (AN3)
Identifiers:: MONDO: MONDO:0014938; MedGen: C4310695; OMIM: 617142

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320997	OMIM	no assertion criteria provided	Pathogenic (Sep 27, 2024)	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

SCV000320997

OMIM

no assertion criteria provided

Pathogenic
(Sep 27, 2024)

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

Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.

Zhang X, Qin G, Chen G, Li T, Gao L, Huang L, Zhang Y, Ouyang K, Wang Y, Pang Y, Zeng B, Yu L.

Hum Mutat. 2015 Dec;36(12):1164-7. doi: 10.1002/humu.22907. Epub 2015 Oct 9.

PubMed [citation]

PMID:: 26394807

Details of each submission

From OMIM, SCV000320997.2

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

Description

In 7 affected members of a Chinese family with aniridia (AN3; 617142), Zhang et al. (2015) identified heterozygosity for a c.463G-A transition (c.463G-A, NM_017583.4) in exon 1 of the TRIM44 gene, resulting in a gly155-to-arg (G155R) substitution at a conserved residue between the ZF UBP and B-box domains. The mutation segregated fully with disease in the family and was not found in the ExAC database. Functional analysis in HLE-B3 cells demonstrated that the G155R variant significantly increases TRIM44 suppression of PAX6 (607108) expression compared to wildtype.

#	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: Oct 8, 2024

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