NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) AND Diastrophic dysplasia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 4, 2016
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:: RCV000411191.2

Allele description [Variation Report for NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)]

NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)

HGVS:

NC_000005.10:g.149978135TG[1]
NG_007147.2:g.19253TG[1]
NM_000112.4:c.485_486delMANE SELECT
NP_000103.2:p.Val162fs
LRG_684t1:c.485_486del
LRG_684:g.19253TG[1]
NC_000005.9:g.149357698TG[1]
NC_000005.9:g.149357698_149357699del
NM_000112.3:c.485_486del
NM_000112.3:c.485_486delTG

Protein change:

V162fs

Links:

dbSNP: rs763198695

NCBI 1000 Genomes Browser:

rs763198695

Molecular consequence:

NM_000112.4:c.485_486del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Diastrophic dysplasia (DTD)
Synonyms:: Diastrophic dwarfism
Identifiers:: MONDO: MONDO:0009107; MedGen: C0220726; Orphanet: 628; OMIM: 222600

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Chain E, NIFE-HYDROGENASE LARGE SUBUNIT, HOFG
Chain E, NIFE-HYDROGENASE LARGE SUBUNIT, HOFG
gi|974994481|pdb|5AA5|E

Protein
LATS1 large tumor suppressor kinase 1 [Homo sapiens]
LATS1 large tumor suppressor kinase 1 [Homo sapiens]
Gene ID:9113

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487731	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Oct 4, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487731

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Oct 4, 2016)

unknown

clinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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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

Citations

PubMed

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH.

J Korean Med Sci. 2010 Jul;25(7):1105-8. doi: 10.3346/jkms.2010.25.7.1105. Epub 2010 Jun 16.

PubMed [citation]

PMID:: 20592910
PMCID:: PMC2890895

Details of each submission

From Counsyl, SCV000487731.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Sep 16, 2024

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