NM_005982.4(SIX1):c.533G>C (p.Arg178Thr) AND Unilateral deafness

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002286438.1

Allele description [Variation Report for NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)]

NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)

Genes:

SIX1:SIX homeobox 1 [Gene - OMIM - HGNC]
MIR9718:microRNA 9718 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

Preferred name:

NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)

HGVS:

NC_000014.9:g.60648657C>G
NG_008231.1:g.5781G>C
NM_005982.4:c.533G>CMANE SELECT
NP_005973.1:p.Arg178Thr
NC_000014.8:g.61115375C>G
NM_005982.3:c.533G>C
NR_162089.1:n.10C>G

Protein change:

R178T

Links:

dbSNP: rs1236315675

NCBI 1000 Genomes Browser:

rs1236315675

Molecular consequence:

NM_005982.4:c.533G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_162089.1:n.10C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Unilateral deafness
Identifiers:: MONDO: MONDO:0007426; MedGen: C2607947; OMIM: 125000; Human Phenotype Ontology: HP:0009900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002575099	Genetic Diagnosis Center, The First Hospital of Jilin University	no assertion criteria provided	Likely pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002575099

Genetic Diagnosis Center, The First Hospital of Jilin University

no assertion criteria provided

Likely pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Diagnosis Center, The First Hospital of Jilin University, SCV002575099.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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