NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys) AND Nephrotic syndrome, type 20

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 30, 2023
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:: RCV001312058.3

Allele description [Variation Report for NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys)]

NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys)

Gene:

TBC1D8B:TBC1 domain family member 8B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

Preferred name:

NM_017752.3(TBC1D8B):c.190C>T (p.Arg64Cys)

HGVS:

NC_000023.11:g.106818722C>T
NG_021284.1:g.21034C>T
NM_017752.3:c.190C>TMANE SELECT
NM_198881.2:c.190C>T
NP_060222.2:p.Arg64Cys
NP_942582.1:p.Arg64Cys
NC_000023.10:g.106061952C>T

Protein change:

R64C; ARG64CYS

Links:

OMIM: 301027.0004; dbSNP: rs748413985

NCBI 1000 Genomes Browser:

rs748413985

Molecular consequence:

NM_017752.3:c.190C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198881.2:c.190C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Nephrotic syndrome, type 20
Identifiers:: MONDO: MONDO:0026726; MedGen: C5193011; OMIM: 301028

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001502490	OMIM	no assertion criteria provided	Pathogenic (Aug 30, 2023)	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

SCV001502490

OMIM

no assertion criteria provided

Pathogenic
(Aug 30, 2023)

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

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.

Kampf LL, Schneider R, Gerstner L, Thünauer R, Chen M, Helmstädter M, Amar A, Onuchic-Whitford AC, Loza Munarriz R, Berdeli A, Müller D, Schrezenmeier E, Budde K, Mane S, Laricchia KM, Rehm HL, MacArthur DG, Lifton RP, Walz G, Römer W, Bergmann C, Hildebrandt F, et al.

J Am Soc Nephrol. 2019 Dec;30(12):2338-2353. doi: 10.1681/ASN.2019040414. Epub 2019 Nov 15.

PubMed [citation]

PMID:: 31732614
PMCID:: PMC6900796

Details of each submission

From OMIM, SCV001502490.2

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

Description

In a boy (patient A2563_21), born of consanguineous Turkish parents, with nephrotic syndrome type 20 (NPHS20; 301028), Kampf et al. (2019) identified a hemizygous c.190C-T transition in exon 2 of the TBC1D8B gene, resulting in an arg64-to-cys (R64C) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. In vitro studies of the murine ortholog showed that the mutation decreased the binding affinity of Tbc1d8b to RAB11 (see 605570).

#	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 14, 2023

ClinVar

Relating variation to medicine