NM_153676.4(USH1C):c.1414-2_1414-1insCTG AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 2018
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:: RCV000673013.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1414-2_1414-1insCTG]

NM_153676.4(USH1C):c.1414-2_1414-1insCTG

Gene:

USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_153676.4(USH1C):c.1414-2_1414-1insCTG

HGVS:

NC_000011.10:g.17510522_17510523insCAG
NG_011883.2:g.38894_38895insCTG
NM_001297764.2:c.1227+6878_1227+6879insCTG
NM_005709.4:c.1284+6878_1284+6879insCTG
NM_153676.4:c.1414-2_1414-1insCTGMANE SELECT
NC_000011.9:g.17532069_17532070insCAG
NG_011883.1:g.38894_38895insCTG
NM_005709.3:c.1284+6878_1284+6879insCTG

Links:

dbSNP: rs769675063

NCBI 1000 Genomes Browser:

rs769675063

Molecular consequence:

NM_001297764.2:c.1227+6878_1227+6879insCTG - intron variant - [Sequence Ontology: SO:0001627]
NM_005709.4:c.1284+6878_1284+6879insCTG - intron variant - [Sequence Ontology: SO:0001627]
NM_153676.4:c.1414-2_1414-1insCTG - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Usher syndrome type 1C
Synonyms:: USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:: MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904

Name:: Autosomal recessive nonsyndromic hearing loss 18A
Synonyms:: Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A
Identifiers:: MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798177	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 27, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798177

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Feb 27, 2018)

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, SCV000798177.1

#	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: Feb 7, 2023

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Relating variation to medicine