U.S. flag

An official website of the United States government

NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000723268.1

Allele description [Variation Report for NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr)]

NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr)

Gene:
SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr)
HGVS:
  • NC_000012.12:g.6355413_6355415delinsGGT
  • NG_011945.2:g.26943_26945delinsACC
  • NM_001038.6:c.1000_1002delinsACCMANE SELECT
  • NM_001159575.2:c.1069_1071delinsACC
  • NM_001159576.2:c.1177_1179delinsACC
  • NP_001029.1:p.Ala334Thr
  • NP_001153047.1:p.Ala357Thr
  • NP_001153048.1:p.Ala393Thr
  • NC_000012.11:g.6464579_6464581delinsGGT
Protein change:
A334T
Links:
dbSNP: rs1565479131
NCBI 1000 Genomes Browser:
rs1565479131
Molecular consequence:
  • NM_001038.6:c.1000_1002delinsACC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159575.2:c.1069_1071delinsACC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159576.2:c.1177_1179delinsACC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854399Gharavi Laboratory, Columbia University
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 16, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Gharavi Laboratory, Columbia University, SCV000854399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022