NM_000111.2(SLC26A3):c.951_953delGGT (p.Val318del) AND Congenital secretory diarrhea, chloride type

Clinical significance:Pathogenic (Last evaluated: May 27, 2011)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000018239.27

Allele description

NM_000111.2(SLC26A3):c.951_953delGGT (p.Val318del)

Gene:
SLC26A3:solute carrier family 26 (anion exchanger), member 3 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000111.2(SLC26A3):c.951_953delGGT (p.Val318del)
HGVS:
  • NC_000007.14:g.107786845_107786847delACC
  • NG_008046.1:g.21387_21389delGGT
  • NM_000111.2:c.951_953delGGT
  • NP_000102.1:p.Val318del
  • NC_000007.13:g.107427290_107427292delACC
Protein change:
V318del
Links:
OMIM: 126650.0001; dbSNP: rs386833491
NCBI 1000 Genomes Browser:
rs386833491
Molecular consequence:
  • NM_000111.2:c.951_953delGGT - inframe_variant - [Sequence Ontology: SO:0001650]

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:
MedGen: C0267662; OMIM: 214700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038518OMIMno assertion criteria providedPathogenic
(May 27, 2011)
germlineliterature only

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

SCV000081852Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedpathogenicnot providednot provided

PubMed (2)
[See all records that cite these PMIDs]

Description

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

SCV000081852

Summary from all submissions

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

Citations

PubMed

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J.

Nat Genet. 1996 Nov;14(3):316-9.

PubMed [citation]
PMID:
8896562

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J.

Hum Mutat. 2011 Jul;32(7):715-22. doi: 10.1002/humu.21498. Epub 2011 Jun 7. Review.

PubMed [citation]
PMID:
21394828

Details of each submission

From OMIM, SCV000038518.1

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

Description

Hoglund et al. (1996) found that all of 32 Finnish patients with CLD (DIAR1; 214700) were homozygous for a 3-bp deletion that resulted in deletion of valine-317 with no frameshift. In eastern Finland from whence the cases were derived, heterozygosity for the val317-to-del mutation was found in 3 of 452 individuals (in 3 of 504 chromosomes) and in none of 368 chromosomes from southwestern Finland where the frequency of CLD is much lower. The mutation consisted of loss of GGT beginning with nucleotide 951 of the cDNA. Sequencing of the coding region of DRA in a Finnish patient revealed an additional T-to-G transversion at position 921, 30 bp upstream of codon 317. This change also occurred in homozygous form in all 32 Finnish individuals affected with CLD, and in heterozygous form in all 43 parents. However, it was found in homozygous form in an unaffected sib of a patient and in a control individual, suggesting that it is not, or is not alone, disease-causing, but rather a functionally neutral polymorphism.

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

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2015