NC_000009.12:g.35657873G>A AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 29, 2016
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:: RCV000423534.2

Allele description [Variation Report for NC_000009.12:g.35657873G>A]

NC_000009.12:g.35657873G>A

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:

NC_000009.12:g.35657873G>A

HGVS:

NC_000009.12:g.35657873G>A
NG_017041.1:g.5146C>T
NG_033120.1:g.4584G>A
LRG_163:g.5146C>T
NC_000009.11:g.35657870G>A

Links:

dbSNP: rs757576534

NCBI 1000 Genomes Browser:

rs757576534

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000523960	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jan 29, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000523960

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jan 29, 2016)

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, SCV000523960.1

#	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. (146 c>t) variant in the RMRP gene, also referred to as r.(145 c>t), has not been published previously as a pathogenic variant nor a benign variant. This substitution occurs at a position that is conserved in mammals and changes a C:G Watson-Crick base pair to a T:G wobble base pair. In addition, other substitutions within the same stem (r.(147 g>a), r.(147 g>c), and r.(169 g>a)) have been reported in the Human Gene Mutation Database in association with CHH (Stenson et al., 2014). Therefore, this variant is likely pathogenic; however, the possibility that it is benign 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: Oct 26, 2024

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