NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) AND Bronchiectasis with or without elevated sweat chloride 3

Clinical significance:Pathogenic (Last evaluated: May 28, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009377.2

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)

Name:
Bronchiectasis with or without elevated sweat chloride 3 (BESC3)
Identifiers:
MONDO: MONDO:0013112; MedGen: C2751324; Orphanet: 60033; OMIM: 613071

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029595OMIMno assertion criteria providedPathogenic
(May 28, 2008)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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

Details of each submission

From OMIM, SCV000029595.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 24-year-old Caucasian woman and an unrelated 46-year-old Caucasian male with idiopathic bronchiectasis who had normal sweat chlorides and nasal potential differences (BESC3; 613071) and who were negative for mutation in the CFTR gene (602421), Fajac et al. (2008) identified heterozygosity for a 591G-A transition in exon 3 of the SCNN1G gene, resulting in a glu197-to-lys (E197K) substitution. The mutation was not found in 50 Caucasian controls. The authors noted that both patients were severely affected, with evidence of airway obstruction on pulmonary function tests (FEV1 that was 64% and 35% of predicted, respectively).

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

Last Updated: Nov 27, 2021

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