NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) AND Multiple epiphyseal dysplasia type 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 2017
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:: RCV000665350.1

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)]

NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)

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.1764C>A (p.Tyr588Ter)

HGVS:

NC_000005.10:g.149981357C>A
NG_007147.2:g.22475C>A
NM_000112.4:c.1764C>AMANE SELECT
NP_000103.2:p.Tyr588Ter
NP_000103.2:p.Tyr588Ter
LRG_684t1:c.1764C>A
LRG_684:g.22475C>A
LRG_684p1:p.Tyr588Ter
NC_000005.9:g.149360920C>A
NM_000112.3:c.1764C>A

Protein change:

Y588*

Links:

dbSNP: rs1554095364

NCBI 1000 Genomes Browser:

rs1554095364

Molecular consequence:

NM_000112.4:c.1764C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000789459	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Feb 1, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789459

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Feb 1, 2017)

unknown

clinical testing

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	clinical testing

Details of each submission

From Counsyl, SCV000789459.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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: Sep 29, 2024

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