NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Aug 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000713392.22

Allele description [Variation Report for NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)]

NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)

Gene:

SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)

HGVS:

NC_000016.10:g.23189642G>A
NG_011909.1:g.11924G>A
NM_001039.4:c.589G>AMANE SELECT
NP_001030.2:p.Glu197Lys
NC_000016.9:g.23200963G>A
NM_001039.3:c.589G>A
P51170:p.Glu197Lys

Protein change:

E197K; GLU197LYS

Links:

UniProtKB: P51170#VAR_034485; OMIM: 600761.0006; dbSNP: rs5738

NCBI 1000 Genomes Browser:

rs5738

Molecular consequence:

NM_001039.4:c.589G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000843993	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (May 2, 2018)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18507830, 28497567, 25900089, 19462466, 26467025
SCV001026690	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 22, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001767236	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (May 15, 2020)	germline	clinical testing	Citation Link,
SCV004141297	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2024)	germline	clinical testing	Citation Link,
SCV005213475	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	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	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Could a defective epithelial sodium channel lead to bronchiectasis.

Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T.

Respir Res. 2008 May 28;9(1):46. doi: 10.1186/1465-9921-9-46.

PubMed [citation]

PMID:: 18507830
PMCID:: PMC2435537

Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.

Kundu K, Pal LR, Yin Y, Moult J.

Hum Mutat. 2017 Sep;38(9):1201-1216. doi: 10.1002/humu.23249. Epub 2017 Jun 27.

PubMed [citation]

PMID:: 28497567
PMCID:: PMC5576720

See all PubMed Citations (7)

Details of each submission

From Athena Diagnostics, SCV000843993.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001026690.4

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001767236.1

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

Description

This variant is associated with the following publications: (PMID: 25900089, 27264265, 28497567, 19462466, 18507830, 22933219)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004141297.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided

Description

SCNN1G: BP4, BS1

#	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		4	not provided	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005213475.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	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: Oct 20, 2024

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