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NM_054027.6(ANKH):c.-80GTCGCCCC[1] AND Craniometaphyseal dysplasia, autosomal dominant

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 5, 2021
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:
RCV002253386.1

Allele description [Variation Report for NM_054027.6(ANKH):c.-80GTCGCCCC[1]]

NM_054027.6(ANKH):c.-80GTCGCCCC[1]

Genes:
LOC129993725:ATAC-STARR-seq lymphoblastoid silent region 15944 [Gene]
ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_054027.6(ANKH):c.-80GTCGCCCC[1]
HGVS:
  • NC_000005.10:g.14871519CGGGGCGA[1]
  • NG_008273.2:g.5259GTCGCCCC[1]
  • NM_054027.6:c.-80GTCGCCCC[1]MANE SELECT
  • LRG_1362t1:c.-80GTCGCCCC[1]
  • LRG_1362:g.5259GTCGCCCC[1]
  • NC_000005.9:g.14871628CGGGGCGA[1]
  • NM_054027.4:c.-72_-65delGTCGCCCC
  • NM_054027.6:c.-72_-65delMANE SELECT
Links:
dbSNP: rs139106733
NCBI 1000 Genomes Browser:
rs139106733
Molecular consequence:
  • NM_054027.6:c.-80GTCGCCCC[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Craniometaphyseal dysplasia, autosomal dominant (CMDD)
Synonyms:
Craniometaphyseal dysplasia Jackson type
Identifiers:
MONDO: MONDO:0007397; MedGen: C1852502; Orphanet: 1522; OMIM: 123000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525143Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Dec 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002525143.1

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

Last Updated: Oct 14, 2023