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NM_054027.6(ANKH):c.-89_-80delinsTC AND Craniometadiaphyseal dysplasia wormian bone type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 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:
RCV000321585.5

Allele description [Variation Report for NM_054027.6(ANKH):c.-89_-80delinsTC]

NM_054027.6(ANKH):c.-89_-80delinsTC

Genes:
ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
LOC129993725:ATAC-STARR-seq lymphoblastoid silent region 15944 [Gene]
Variant type:
Indel
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_054027.6(ANKH):c.-89_-80delinsTC
HGVS:
  • NC_000005.10:g.14871527_14871536delinsGA
  • NG_008273.2:g.5250_5259delinsTC
  • NM_054027.6:c.-89_-80delinsTCMANE SELECT
  • LRG_1362t1:c.-89_-80delinsTC
  • LRG_1362:g.5250_5259delinsTC
  • NC_000005.9:g.14871636_14871645delinsGA
  • NM_054027.4:c.-89_-80delGCTCGCCCCGinsTC
Links:
dbSNP: rs886060202
NCBI 1000 Genomes Browser:
rs886060202
Molecular consequence:
  • NM_054027.6:c.-89_-80delinsTC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Craniometadiaphyseal dysplasia wormian bone type (CRMDD)
Identifiers:
MONDO: MONDO:0010014; MedGen: C4510809; Orphanet: 85184; OMIM: 269300

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000454614Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000454614.2

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

Last Updated: Oct 14, 2023