NR_003051.3(RMRP):n.-25_-8dup18 AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 16, 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:: RCV000667166.1

Allele description [Variation Report for NR_003051.3(RMRP):n.-25_-8dup18]

NR_003051.3(RMRP):n.-25_-8dup18

Gene:

RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NR_003051.3(RMRP):n.-25_-8dup18

HGVS:

NC_000009.12:g.35658026_35658043dup
NG_017041.1:g.4976_4993dup
NG_033120.1:g.4737_4754dup
LRG_163:g.4976_4993dup
NC_000009.11:g.35658022_35658023insCAGCTTCACAGAGTAGTA
NC_000009.11:g.35658023_35658040dup

Links:

dbSNP: rs1554651473

NCBI 1000 Genomes Browser:

rs1554651473

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000791573	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jun 16, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11207361, 17937437, 16254002, 14608646 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000791573

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Jun 16, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A.

Cell. 2001 Jan 26;104(2):195-203.

PubMed [citation]

PMID:: 11207361

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.

Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D.

Am J Med Genet A. 2007 Nov 15;143A(22):2675-81.

PubMed [citation]

PMID:: 17937437

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000791573.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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