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NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg) 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:
RCV000049384.1

Allele description [Variation Report for NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg)]

NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg)

Gene:
SLC26A3:solute carrier family 26 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg)
HGVS:
  • NC_000007.14:g.107778202A>C
  • NG_008046.1:g.30032T>G
  • NM_000111.3:c.1487T>GMANE SELECT
  • NP_000102.1:p.Leu496Arg
  • NP_000102.1:p.Leu496Arg
  • LRG_683t1:c.1487T>G
  • LRG_683:g.30032T>G
  • LRG_683p1:p.Leu496Arg
  • NC_000007.13:g.107418647A>C
  • NM_000111.2:c.1487T>G
  • P40879:p.Leu496Arg
Protein change:
L496R
Links:
UniProtKB: P40879#VAR_066071; dbSNP: rs386833457
NCBI 1000 Genomes Browser:
rs386833457
Molecular consequence:
  • NM_000111.3:c.1487T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000081817Juha 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

SCV000081817

Help

Summary from all submissions

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

Citations

PubMed

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J.

Am J Hum Genet. 1998 Sep;63(3):760-8.

PubMed [citation]
PMID:
9718329
PMCID:
PMC1377387

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081817.1

#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: Apr 23, 2022