NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) AND Leber congenital amaurosis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 18, 2021
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:: RCV000504702.2

Allele description [Variation Report for NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)]

NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)

Gene:

IQCB1:IQ motif containing B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)

HGVS:

NC_000003.12:g.121828519G>A
NG_015887.1:g.11561C>T
NM_001023570.4:c.214C>TMANE SELECT
NM_001023571.4:c.214C>T
NM_001319107.2:c.214C>T
NP_001018864.2:p.Arg72Ter
NP_001018865.2:p.Arg72Ter
NP_001306036.1:p.Arg72Ter
NC_000003.11:g.121547366G>A
NM_001023570.2:c.214C>T
NM_001023570.3:c.214C>T
NR_134968.2:n.409C>T

Protein change:

R72*

Links:

dbSNP: rs201405662

NCBI 1000 Genomes Browser:

rs201405662

Molecular consequence:

NR_134968.2:n.409C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001023570.4:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001023571.4:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001319107.2:c.214C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Leber congenital amaurosis (LCA)
Synonyms:: Congenital retinal blindness; Leber's amaurosis
Identifiers:: MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000598852	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001815897	DBGen Ocular Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 18, 2021)	germline	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

SCV000598852

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic
(Jan 1, 2015)

unknown

research

PubMed (1)
[See all records that cite this PMID]

SCV001815897

DBGen Ocular Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 18, 2021)

germline

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
European	unknown	yes	1	not provided	not provided	1	not provided	research
unspecified	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598852.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	1	not provided	not provided		1	not provided	not provided	not provided

From DBGen Ocular Genomics, SCV001815897.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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