NR_003051.4(RMRP):n.250C>T AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 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:: RCV000668162.1

Allele description [Variation Report for NR_003051.4(RMRP):n.250C>T]

NR_003051.4(RMRP):n.250C>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.250C>T

HGVS:

NC_000009.12:g.35657770G>A
NG_017041.1:g.5249C>T
NG_033120.1:g.4481G>A
NG_116211.1:g.306G>A
LRG_163t1:n.249C>T
LRG_163:g.5249C>T
NC_000009.11:g.35657767G>A
NR_003051.3:n.249C>T
NR_003051.4:n.250C>T

Links:

dbSNP: rs1554651104

NCBI 1000 Genomes Browser:

rs1554651104

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
SCV000792717	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jul 20, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16244706, 17701897 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792717

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Jul 20, 2017)

unknown

clinical testing

PubMed (2)
[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

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A.

PLoS Genet. 2005 Oct;1(4):e47.

PubMed [citation]

PMID:: 16244706
PMCID:: PMC1262189

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A.

Am J Hum Genet. 2007 Sep;81(3):519-29. Epub 2007 Aug 6.

PubMed [citation]

PMID:: 17701897
PMCID:: PMC1950841

Details of each submission

From Counsyl, SCV000792717.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Oct 14, 2023

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