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

Clinical significance:Benign/Likely benign (Last evaluated: May 15, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000713392.6

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000843993Athena Diagnostics Inccriteria provided, single submitter
Benign
(May 2, 2018)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001026690Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001767236GeneDxcriteria provided, single submitter
Likely benign
(May 15, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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;9:46. 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 (6)

Details of each submission

From Athena Diagnostics Inc, SCV000843993.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001026690.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001767236.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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