NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs) AND Atelosteogenesis type II

Clinical significance:Likely pathogenic (Last evaluated: Feb 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410934.1

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)]

NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)

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.1955_1958del (p.Asp652fs)
HGVS:
  • NC_000005.10:g.149981548_149981551del
  • NG_007147.2:g.22666_22669del
  • NM_000112.4:c.1955_1958delMANE SELECT
  • NP_000103.2:p.Asp652fs
  • LRG_684:g.22666_22669del
  • NC_000005.9:g.149361111_149361114del
  • NM_000112.3:c.1955_1958delACTG
Protein change:
D652fs
Links:
dbSNP: rs1057517474
NCBI 1000 Genomes Browser:
rs1057517474
Molecular consequence:
  • NM_000112.4:c.1955_1958del - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000487516Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 16, 2016)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000487516.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center