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NR_003051.4(RMRP):n.17C>T AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Apr 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001598684.7

Allele description [Variation Report for NR_003051.4(RMRP):n.17C>T]

NR_003051.4(RMRP):n.17C>T

Gene:
RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NR_003051.4(RMRP):n.17C>T
HGVS:
  • NC_000009.12:g.35658003G>A
  • NG_017041.1:g.5016C>T
  • NG_033120.1:g.4714G>A
  • NG_116211.1:g.539G>A
  • LRG_163t1:n.16C>T
  • LRG_163:g.5016C>T
  • NC_000009.11:g.35658000G>A
  • NC_000009.11:g.35658000G>A
  • NR_003051.3:n.16C>T
  • NR_003051.4:n.17C>T
Links:
dbSNP: rs772664375
NCBI 1000 Genomes Browser:
rs772664375
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001827223Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 3, 2021)
paternalclinical testing

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

SCV002077561Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 17, 2020)
germlineclinical testing

SCV002512076Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 1, 2022)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedinheritedyes1not providednot providednot providednoclinical testing
Causasianspaternalyes11not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001827223.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providedbloodnot provided1not provided1not provided

From Natera, Inc., SCV002077561.1

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

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV002512076.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024