NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter) AND Usher syndrome type 1C

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 7, 2021
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:: RCV002306741.2

Allele description [Variation Report for NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)]

NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)

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.81T>A (p.Tyr27Ter)

HGVS:

NC_000011.10:g.17533278A>T
NG_011883.2:g.16139T>A
NM_001297764.2:c.81T>A
NM_005709.4:c.81T>A
NM_153676.4:c.81T>AMANE SELECT
NP_001284693.1:p.Tyr27Ter
NP_005700.2:p.Tyr27Ter
NP_710142.1:p.Tyr27Ter
NC_000011.9:g.17554825A>T
NR_123738.2:n.190T>A

Protein change:

Y27*

Molecular consequence:

NR_123738.2:n.190T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001297764.2:c.81T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_005709.4:c.81T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_153676.4:c.81T>A - 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
SCV002602771	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Nov 7, 2021)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602771

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Nov 7, 2021)

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 Myriad Genetics, Inc., SCV002602771.2

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

Description

NM_005709.3(USH1C):c.81T>A(Y27*) is expected to be pathogenic in the context of USH1C-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in USH1C, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	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: Dec 24, 2022

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