NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) AND Usher syndrome type 1C

Germline classification:: Uncertain significance (2 submissions)
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:: RCV000984230.3

Allele description [Variation Report for NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)]

NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)

HGVS:

NC_000011.10:g.17504664G>A
NG_011883.2:g.44753C>T
NM_001297764.2:c.1228-2684C>T
NM_005709.4:c.1285-2684C>T
NM_153676.4:c.2167C>TMANE SELECT
NP_710142.1:p.Gln723Ter
NC_000011.9:g.17526211G>A
NG_011883.1:g.44753C>T
NM_005709.3:c.1285-2684C>T
NM_153676.3:c.2167C>T
c.2167C>T
p.Gln723X

Protein change:

Q723*

Links:

dbSNP: rs146451547

NCBI 1000 Genomes Browser:

rs146451547

Molecular consequence:

NM_001297764.2:c.1228-2684C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_005709.4:c.1285-2684C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_153676.4:c.2167C>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132306	Counsyl	no assertion criteria provided	Uncertain significance (Apr 7, 2019)	unknown	clinical testing
SCV002583280	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	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

SCV001132306

Counsyl

no assertion criteria provided

Uncertain significance
(Apr 7, 2019)

unknown

clinical testing

SCV002583280

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Counsyl, SCV001132306.1

#	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

From Baylor Genetics, SCV002583280.2

#	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: Mar 10, 2024

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