NM_000112.4(SLC26A2):c.391del (p.Leu131fs) AND Achondrogenesis, type IB

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:
1 submission [Details]
Record status:
current
Accession:
RCV000410549.1

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:
Achondrogenesis, type IB (ACG1B)
Synonyms:
Achondrogenesis Fraccaro type
Identifiers:
MONDO: MONDO:0010966; MedGen: C0265274; Orphanet: 932; Orphanet: 93298; OMIM: 600972

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487653Counsylcriteria 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

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 Counsyl, SCV000487653.1

#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: Oct 25, 2021

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