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NM_174878.3(CLRN1):c.336C>G (p.Thr112=) AND Usher syndrome type 3

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 7, 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:
RCV000668143.1

Allele description [Variation Report for NM_174878.3(CLRN1):c.336C>G (p.Thr112=)]

NM_174878.3(CLRN1):c.336C>G (p.Thr112=)

Gene:
CLRN1:clarin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
NM_174878.3(CLRN1):c.336C>G (p.Thr112=)
HGVS:
  • NC_000003.12:g.150941679G>C
  • NG_009168.1:g.36321C>G
  • NM_001195794.1:c.336C>G
  • NM_001256819.2:c.508C>G
  • NM_052995.2:c.108C>G
  • NM_174878.3:c.336C>GMANE SELECT
  • NP_001182723.1:p.Thr112=
  • NP_001243748.1:p.His170Asp
  • NP_443721.1:p.Thr36=
  • NP_777367.1:p.Thr112=
  • LRG_700t1:c.336C>G
  • LRG_700t2:c.108C>G
  • LRG_700:g.36321C>G
  • LRG_700p1:p.Thr112=
  • LRG_700p2:p.Thr36=
  • NC_000003.11:g.150659466G>C
  • NM_174878.2:c.336C>G
  • NR_046380.3:n.506C>G
Protein change:
H170D
Links:
dbSNP: rs565400473
NCBI 1000 Genomes Browser:
rs565400473
Molecular consequence:
  • NM_001256819.2:c.508C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046380.3:n.506C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001195794.1:c.336C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_052995.2:c.108C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_174878.3:c.336C>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000792694Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Jul 7, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000792694.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024