NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) AND Joubert syndrome 10

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 1, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001262142.1

Allele description [Variation Report for NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)]

NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)

Gene:

OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)

HGVS:

NC_000023.11:g.13760636C>T
NG_008872.1:g.30924C>T
NM_001330209.2:c.2056C>T
NM_001330210.2:c.1756C>T
NM_003611.3:c.2176C>TMANE SELECT
NP_001317138.1:p.Arg686Cys
NP_001317139.1:p.Arg586Cys
NP_003602.1:p.Arg726Cys
NC_000023.10:g.13778755C>T
NM_003611.2:c.2176C>T

Protein change:

R586C

Links:

dbSNP: rs1260959326

NCBI 1000 Genomes Browser:

rs1260959326

Molecular consequence:

NM_001330209.2:c.2056C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330210.2:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003611.3:c.2176C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Joubert syndrome 10 (JBTS10)
Identifiers:: MONDO: MONDO:0010431; MedGen: C2749019; Orphanet: 2754; OMIM: 300804

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001439907	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jan 1, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439907

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jan 1, 2019)

unknown

clinical testing

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	unknown	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001439907.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was identified as compound heterozygous.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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