NM_000112.4(SLC26A2):c.391del (p.Leu131fs) AND Atelosteogenesis type II

Clinical significance:Likely pathogenic (Last evaluated: Jun 24, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000004304.5

Allele description [Variation Report for NM_000112.4(SLC26A2):c.391del (p.Leu131fs)]

NM_000112.4(SLC26A2):c.391del (p.Leu131fs)

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.391del (p.Leu131fs)
HGVS:
  • NC_000005.10:g.149978043del
  • NG_007147.2:g.19161del
  • NM_000112.4:c.391delMANE SELECT
  • NP_000103.2:p.Leu131fs
  • LRG_684:g.19161del
  • NC_000005.9:g.149357606del
  • NM_000112.3:c.391delC
Note:
NCBI staff reviewed the sequence information reported in PubMed 8931695 Fig. 4 to determine the location of this allele on the current reference sequence.
Protein change:
L131fs
Links:
OMIM: 606718.0012; dbSNP: rs786200881
NCBI 1000 Genomes Browser:
rs786200881
Molecular consequence:
  • NM_000112.4:c.391del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024471OMIMno assertion criteria providedPathogenic
(Dec 1, 1996)
germlineliterature only

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

SCV000487652Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 24, 2016)
unknownclinical 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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

Rossi A, van der Harten HJ, Beemer FA, Kleijer WJ, Gitzelmann R, Steinmann B, Superti-Furga A.

Hum Genet. 1996 Dec;98(6):657-61.

PubMed [citation]
PMID:
8931695

Details of each submission

From OMIM, SCV000024471.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp deletion of cytosine-418 in the SLC26A2 gene that was found in compound heterozygous state in a patient with atelosteogenesis type II (AO2; 256050) by Rossi et al. (1996), see 606718.0002.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Counsyl, SCV000487652.1

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

Last Updated: Nov 27, 2021

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