NM_174878.3(CLRN1):c.6A>C (p.Pro2=) AND Usher syndrome type 3

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 19, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000672213.5

Allele description [Variation Report for NM_174878.3(CLRN1):c.6A>C (p.Pro2=)]

NM_174878.3(CLRN1):c.6A>C (p.Pro2=)

Genes:

CLRN1-AS1:CLRN1 antisense RNA 1 [Gene - HGNC]
CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q25.1

Genomic location:

Preferred name:

NM_174878.3(CLRN1):c.6A>C (p.Pro2=)

Other names:

p.P2P:CCA>CCC

HGVS:

NC_000003.12:g.150972703T>G
NG_009168.1:g.5297A>C
NM_001195794.1:c.6A>C
NM_001256819.2:c.6A>C
NM_174878.3:c.6A>CMANE SELECT
NP_001182723.1:p.Pro2=
NP_001243748.1:p.Pro2=
NP_777367.1:p.Pro2=
LRG_700t1:c.6A>C
LRG_700:g.5297A>C
LRG_700p1:p.Pro2=
NC_000003.11:g.150690490T>G
NM_174878.2:c.6A>C
NR_024066.2:n.26T>G
NR_046380.3:n.25A>C
c.6A>C
p.Pro2Pro

Links:

dbSNP: rs111033422

NCBI 1000 Genomes Browser:

rs111033422

Molecular consequence:

NR_024066.2:n.26T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_046380.3:n.25A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001195794.1:c.6A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001256819.2:c.6A>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_174878.3:c.6A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Usher syndrome type 3
Synonyms:: Usher Syndrome, Type III
Identifiers:: MONDO: MONDO:0016485; MedGen: C1568248

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000441719	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Jan 13, 2018)	germline	clinical testing	Citation Link,
SCV000797297	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Benign (Jan 19, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000441719

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Jan 13, 2018)

germline

clinical testing

Citation Link,

SCV000797297

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Benign
(Jan 19, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

PubMed [citation]

PMID:: 22135276
PMCID:: PMC3678402

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000441719.3

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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

From Counsyl, SCV000797297.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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