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NR_003051.4(RMRP):n.116_117insCC AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 12, 2017
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:
RCV000667102.1

Allele description [Variation Report for NR_003051.4(RMRP):n.116_117insCC]

NR_003051.4(RMRP):n.116_117insCC

Gene:
RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NR_003051.4(RMRP):n.116_117insCC
HGVS:
  • NC_000009.12:g.35657903_35657904insGG
  • NG_017041.1:g.5115_5116insCC
  • NG_033120.1:g.4614_4615insGG
  • NG_116211.1:g.439_440insGG
  • LRG_163t1:n.115_116insCC
  • LRG_163:g.5115_5116insCC
  • NC_000009.11:g.35657900_35657901insGG
  • NR_003051.3:n.115_116insCC
  • NR_003051.4:n.116_117insCC
Links:
dbSNP: rs1554651212
NCBI 1000 Genomes Browser:
rs1554651212

Condition(s)

Name:
Metaphyseal chondrodysplasia, McKusick type (CHH)
Synonyms:
Cartilage-Hair Hypoplasia
Identifiers:
MONDO: MONDO:0009595; MedGen: C0220748; Orphanet: 175; OMIM: 250250

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791500Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 12, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791500.1

#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: Oct 14, 2023