NR_003051.3(RMRP):n.-57T>C AND not provided

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Germline classification:: Benign (1 submission)
Last evaluated:: Jan 2, 2014
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:: RCV000127790.1

Allele description

NR_003051.3(RMRP):n.-57T>C

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.-57T>C

HGVS:

NC_000009.12:g.35658075A>G
NG_017041.1:g.4944T>C
LRG_163:g.4944T>C
NC_000009.11:g.35658072A>G
NR_003051.3:n.-57T>C
NR_003051.3:r.-57T>C

Links:

dbSNP: rs3829077

GMAF:

0.3045(G), 3829077

NCBI 1000 Genomes Browser:

rs3829077

Molecular consequence:

NR_003051.3:n.-57T>C - 2KB upstream variant - [Sequence Ontology: SO:0001636]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000171370	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 2, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000171370

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jan 2, 2014)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000171370.2

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

Description

The variant is found in RMRP panel(s).

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

Last Updated: Feb 26, 2017

ClinVar

Relating variation to medicine