NR_003051.3(RMRP):n.51C>T AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 20, 2015
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:: RCV000487375.1

Allele description

NR_003051.3(RMRP):n.51C>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_003051.3(RMRP):n.51C>T

HGVS:

NC_000009.12:g.35657968G>A
NG_017041.1:g.5051C>T
NG_033120.1:g.4679G>A
LRG_163t1:n.51C>T
LRG_163:g.5051C>T
NC_000009.11:g.35657965G>A
NR_003051.3:n.51C>T

Links:

Counsyl: 237476; dbSNP: rs1064793373

NCBI 1000 Genomes Browser:

rs1064793373

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000565950	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Mar 20, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000565950

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Mar 20, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000565950.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

To our knowledge, the r.(51 c>u) variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism. The r.(51 c>u) variant is located in the stem region close to the P3 domain of RMRP. This substitution occurs at a position that is well conserved across species, with T" only being observed in the megabat species. The r.(51 c>u) variant changes a Watson-Crick base pair to a T:G wobble base pair. In addition, a known variant r.(41 g>a) at an adjacent Watson-Crick base pair in the same stem region and other regulatory mutations have been reported in the Human Gene Mutation Database in association with Cartilage-Hair hypoplasia (Stenson et al., 2014). Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded."

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

Last Updated: Apr 23, 2022

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