NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) AND not specified

Clinical significance:Benign (Last evaluated: Nov 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289233.1

Allele description [Variation Report for NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)]

NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)

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.1887C>T (p.Asp629=)
HGVS:
  • NC_000016.10:g.23380765C>T
  • NG_011908.1:g.83496C>T
  • NM_000336.3:c.1887C>TMANE SELECT
  • NP_000327.2:p.Asp629=
  • NC_000016.9:g.23392086C>T
  • NM_000336.2:c.1887C>T
Links:
dbSNP: rs61759917
NCBI 1000 Genomes Browser:
rs61759917
Molecular consequence:
  • NM_000336.3:c.1887C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001476916Athena Diagnostics Inccriteria provided, single submitter
Benign
(Nov 12, 2019)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

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

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
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV001476916.1

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

Last Updated: Nov 27, 2021

Support Center