Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005982.4(SIX1):c.-161G>C

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000313471.1
Variation ID:
313471
Description:
single nucleotide variant
Help

NM_005982.4(SIX1):c.-161G>C

Allele ID
329656
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q23.1
Genomic location
14: 60649350 (GRCh38) GRCh38 UCSC
14: 61116068 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.61116068C>G
NC_000014.9:g.60649350C>G
NM_005982.4:c.-161G>C 5 prime UTR
NG_008231.1:g.5088G>C
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10640405
dbSNP: rs886050573
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000312472.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000397340.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SIX1 No evidence available No evidence available GRCh38
GRCh37
70 84

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Nonsyndromic Hearing Loss, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000387298.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Branchiootorenal Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000387299.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019