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_000336.3(SCNN1B):c.777-5T>C

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000227060.6
Variation ID:
227060
Description:
single nucleotide variant
Help

NM_000336.3(SCNN1B):c.777-5T>C

Allele ID
230632
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p12.2
Genomic location
16: 23367851 (GRCh38) GRCh38 UCSC
16: 23379172 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.23367851T>C
NC_000016.9:g.23379172T>C
NM_000336.3:c.777-5T>C MANE Select
NG_011908.1:g.70582T>C
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:23367850:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00461
Trans-Omics for Precision Medicine (TOPMed) 0.00321
The Genome Aggregation Database (gnomAD) 0.00331
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00462
The Genome Aggregation Database (gnomAD), exomes 0.00409
1000 Genomes Project 0.00379
Links
ClinGen: CA7960255
dbSNP: rs61759915
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000891755.3
Benign 1 criteria provided, single submitter Feb 3, 2016 RCV000220924.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000275967.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000316419.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000371088.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCNN1B - - GRCh38
GRCh37
150 182

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 03, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269801.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.777-5T>C in intron 4 of SCNN1B: This variant is not expected to have clinical significance because it has been identified in 1% (181/16512) of South … (more)
Likely benign
(Jun 20, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000615139.2
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (2)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001035588.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Bronchiectasis with or without elevated sweat chloride 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395864.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive pseudohypoaldosteronism type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395863.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Liddle syndrome 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395862.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes. Brennan ML Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 PMID: 25900089
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Azad AK Human mutation 2009 PMID: 19462466

Text-mined citations for rs61759915...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021