NM_000112.4(SLC26A2):c.700-1G>C AND Multiple epiphyseal dysplasia type 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 13, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000169177.2

Allele description [Variation Report for NM_000112.4(SLC26A2):c.700-1G>C]

NM_000112.4(SLC26A2):c.700-1G>C

Gene:

SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_000112.4(SLC26A2):c.700-1G>C

HGVS:

NC_000005.10:g.149980292G>C
NG_007147.2:g.21410G>C
NM_000112.4:c.700-1G>CMANE SELECT
LRG_684t1:c.700-1G>C
LRG_684:g.21410G>C
NC_000005.9:g.149359855G>C
NM_000112.3:c.700-1G>C

Links:

dbSNP: rs200963884

NCBI 1000 Genomes Browser:

rs200963884

Molecular consequence:

NM_000112.4:c.700-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Multiple epiphyseal dysplasia type 4 (EDM4)
Synonyms:: Multiple epiphyseal dysplasia, autosomal recessive; Multiple epiphyseal dysplasia with clubfoot; Multiple epiphyseal dysplasia with double-layered patella; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009189; MedGen: C1847593; Orphanet: 93307; OMIM: 226900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000220411	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jun 13, 2014)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 21155763, 7923357 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000220411

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Jun 13, 2014)

unknown

literature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L.

Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13.

PubMed [citation]

PMID:: 21155763

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, et al.

Cell. 1994 Sep 23;78(6):1073-87.

PubMed [citation]

PMID:: 7923357

Details of each submission

From Counsyl, SCV000220411.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

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

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine