NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) AND Usher syndrome type 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 21, 2017
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:: RCV000671643.1

Allele description [Variation Report for NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)]

NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)

Gene:

CLRN1:clarin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q25.1

Genomic location:

Preferred name:

NM_174878.3(CLRN1):c.151_154del (p.Gly51fs)

HGVS:

NC_000003.12:g.150972555_150972558del
NG_009168.1:g.5442_5445del
NM_001195794.1:c.151_154del
NM_001256819.2:c.151_154del
NM_174878.3:c.151_154delMANE SELECT
NP_001182723.1:p.Gly51fs
NP_001243748.1:p.Gly51fs
NP_777367.1:p.Gly51fs
LRG_700t1:c.151_154del
LRG_700:g.5442_5445del
LRG_700p1:p.Gly51fs
NC_000003.11:g.150690342_150690345del
NM_174878.2:c.151_154delGGGC
NR_046380.3:n.170_173del

Protein change:

G51fs

Links:

dbSNP: rs1553776061

NCBI 1000 Genomes Browser:

rs1553776061

Molecular consequence:

NM_001195794.1:c.151_154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001256819.2:c.151_154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_174878.3:c.151_154del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_046380.3:n.170_173del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000796636	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Dec 21, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796636

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Dec 21, 2017)

unknown

clinical testing

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

Details of each submission

From Counsyl, SCV000796636.1

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

#	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: May 24, 2022

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