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NM_000111.3(SLC26A3):c.1515-2del AND Congenital secretory diarrhea, chloride type

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000049385.1

Allele description [Variation Report for NM_000111.3(SLC26A3):c.1515-2del]

NM_000111.3(SLC26A3):c.1515-2del

Gene:
SLC26A3:solute carrier family 26 member 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000111.3(SLC26A3):c.1515-2del
HGVS:
  • NC_000007.14:g.107776708del
  • NG_008046.1:g.31526del
  • NM_000111.3:c.1515-2delMANE SELECT
  • LRG_683:g.31526del
  • NC_000007.13:g.107417153del
  • NM_000111.2:c.1515-2delA
Links:
dbSNP: rs386833458
NCBI 1000 Genomes Browser:
rs386833458
Molecular consequence:
  • NM_000111.3:c.1515-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Congenital secretory diarrhea, chloride type (DIAR1)
Synonyms:
Congenital chloride diarrhea; Diarrhea 1, secretory chloride, congenital; Chloridorrhea, congenital; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008964; MedGen: C0267662; OMIM: 214700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081818Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)
no assertion criteria provided
probable-pathogenicnot providednot provided

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000081818

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.

Höglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, de Jonge H, Holmberg C, Yoshikawa H, Kere J.

Hum Mutat. 2001 Sep;18(3):233-42.

PubMed [citation]
PMID:
11524734

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023