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NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) AND Multiple epiphyseal dysplasia type 4

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 23, 2015
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:
RCV000169577.2

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)]

NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)

Gene:
SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
HGVS:
  • NC_000005.10:g.149981243del
  • NG_007147.2:g.22361del
  • NM_000112.4:c.1650delMANE SELECT
  • NP_000103.2:p.Ser551fs
  • LRG_684:g.22361del
  • NC_000005.9:g.149360806del
  • NM_000112.3:c.1650delG
Protein change:
S551fs
Links:
dbSNP: rs386833497
NCBI 1000 Genomes Browser:
rs386833497
Molecular consequence:
  • NM_000112.4:c.1650del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221080Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))
Likely pathogenic
(Jan 23, 2015)
unknownliterature only

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

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.

Rossi A, Superti-Furga A.

Hum Mutat. 2001 Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82.

PubMed [citation]
PMID:
11241838

Details of each submission

From Counsyl, SCV000221080.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024