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NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) AND Atelosteogenesis type II

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 11, 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:
RCV000409936.10

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)]

NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)

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.1957T>A (p.Cys653Ser)
HGVS:
  • NC_000005.10:g.149981550T>A
  • NG_007147.2:g.22668T>A
  • NM_000112.4:c.1957T>AMANE SELECT
  • NP_000103.2:p.Cys653Ser
  • NP_000103.2:p.Cys653Ser
  • LRG_684t1:c.1957T>A
  • LRG_684:g.22668T>A
  • LRG_684p1:p.Cys653Ser
  • NC_000005.9:g.149361113T>A
  • NM_000112.3:c.1957T>A
  • NM_000112.4:c.1957T>A
  • P50443:p.Cys653Ser
Protein change:
C653S; CYS653SER
Links:
UniProtKB: P50443#VAR_018655; OMIM: 606718.0011; dbSNP: rs104893924
NCBI 1000 Genomes Browser:
rs104893924
Molecular consequence:
  • NM_000112.4:c.1957T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atelosteogenesis type II (AO2)
Synonyms:
NEONATAL OSSEOUS DYSPLASIA I; Neonatal osseous dysplasia 1; Atelosteogenesis type 2
Identifiers:
MONDO: MONDO:0009727; MedGen: C1850554; Orphanet: 56304; OMIM: 256050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000487415Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Mar 11, 2016) 		unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A.

J Med Genet. 2003 Jan;40(1):65-71. No abstract available.

PubMed [citation]
PMID:
12525546
PMCID:
PMC1735262

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
See all PubMed Citations (8)

Details of each submission

From Counsyl, SCV000487415.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024