NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter) AND Warburg micro syndrome 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 5, 2013
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:: RCV000087141.4

Allele description [Variation Report for NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)]

NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)

Gene:

TBC1D20:TBC1 domain family member 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

Preferred name:

NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)

HGVS:

NC_000020.11:g.440344C>T
NG_034082.1:g.27210G>A
NM_144628.4:c.672G>AMANE SELECT
NP_653229.1:p.Trp224Ter
NC_000020.10:g.420988C>T
NM_144628.2:c.672G>A
NR_111901.2:n.800G>A

Protein change:

W224*; TRP224TER

Links:

OMIM: 611663.0004; dbSNP: rs587777160

NCBI 1000 Genomes Browser:

rs587777160

Molecular consequence:

NR_111901.2:n.800G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_144628.4:c.672G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Warburg micro syndrome 4 (WARBM4)
Identifiers:: MONDO: MONDO:0014296; MedGen: C3810265; Orphanet: 2510; OMIM: 615663

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000120002	OMIM	no assertion criteria provided	Pathogenic (Dec 5, 2013)	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

SCV000120002

OMIM

no assertion criteria provided

Pathogenic
(Dec 5, 2013)

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

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, et al.

Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.

PubMed [citation]

PMID:: 24239381
PMCID:: PMC3852926

Details of each submission

From OMIM, SCV000120002.2

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

Description

In a 14-year-old Egyptian boy with Warburg Micro syndrome (WARBM4; 615663), Liegel et al. (2013) identified homozygosity for a c.672G-A transition in exon 6 of the TBC1D20 gene, resulting in a trp224-to-ter (W224X) substitution. The unaffected parents were heterozygous for the mutation, which was not found in the Exome Variant Server database (ESP6500SI-V2) or in 200 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: Apr 23, 2022

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