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

Recent activity

Clear Turn Off Turn On

Galactosuria
Galactosuria

MedGen
Abnormality of upper lip vermillion
Abnormality of upper lip vermillion

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221080	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Jan 23, 2015)	unknown	literature only	PubMed (1) [See all records that cite this PMID] 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

SCV000221080

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jan 23, 2015)

unknown

literature only

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

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

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

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

#	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: May 12, 2024

ClinVar

Relating variation to medicine