NM_000111.3(SLC26A3):c.1517del (p.Pro506fs) 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:: RCV000049386.1

Allele description [Variation Report for NM_000111.3(SLC26A3):c.1517del (p.Pro506fs)]

NM_000111.3(SLC26A3):c.1517del (p.Pro506fs)

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.1517del (p.Pro506fs)

HGVS:

NC_000007.14:g.107776705del
NG_008046.1:g.31530del
NM_000111.3:c.1517delMANE SELECT
NP_000102.1:p.Pro506fs
LRG_683:g.31530del
NC_000007.13:g.107417150del
NM_000111.2:c.1517delC

Protein change:

P506fs

Links:

dbSNP: rs386833459

NCBI 1000 Genomes Browser:

rs386833459

Molecular consequence:

NM_000111.3:c.1517del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000081819	Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	no assertion criteria provided	probable-pathogenic	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000081819

Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

no assertion criteria provided

probable-pathogenic

not 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: SCV000081819

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Höglund P, Haila S, Gustavson KH, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J.

Hum Mutat. 1998;11(4):321-7.

PubMed [citation]

PMID:: 9554749

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081819.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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