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NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer) AND Atelosteogenesis type II

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 19, 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:
RCV000411069.2

Allele description [Variation Report for NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)]

NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)

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.1976del (p.Phe658_Leu659insTer)
HGVS:
  • NC_000005.10:g.149981569del
  • NG_007147.2:g.22687del
  • NM_000112.4:c.1976delMANE SELECT
  • NP_000103.2:p.Phe658_Leu659insTer
  • LRG_684:g.22687del
  • NC_000005.9:g.149361132del
  • NM_000112.3:c.1976delT
Links:
dbSNP: rs386833499
NCBI 1000 Genomes Browser:
rs386833499
Molecular consequence:
  • NM_000112.4:c.1976del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000487722Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Sep 19, 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

Help

Summary from all submissions

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

Citations

PubMed

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

Details of each submission

From Counsyl, SCV000487722.2

#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: Mar 18, 2023