NM_000336.3(SCNN1B):c.777-5T>C AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Dec 31, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000891755.3

Allele description [Variation Report for NM_000336.3(SCNN1B):c.777-5T>C]

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

Gene:
SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_000336.3(SCNN1B):c.777-5T>C
HGVS:
  • NC_000016.10:g.23367851T>C
  • NG_011908.1:g.70582T>C
  • NM_000336.3:c.777-5T>CMANE SELECT
  • NC_000016.9:g.23379172T>C
  • NM_000336.2:c.777-5T>C
Links:
dbSNP: rs61759915
NCBI 1000 Genomes Browser:
rs61759915
Molecular consequence:
  • NM_000336.3:c.777-5T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000615139Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Jun 20, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001035588Invitaecriteria provided, single submitter
Benign
(Dec 31, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, et al.

Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011.

PubMed [citation]
PMID:
19462466

Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.

Brennan ML, Pique LM, Schrijver I.

J Cyst Fibros. 2016 Jan;15(1):52-9. doi: 10.1016/j.jcf.2015.04.001. Epub 2015 Apr 18.

PubMed [citation]
PMID:
25900089
See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics Inc, SCV000615139.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001035588.2

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

Last Updated: Jul 7, 2021

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