NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) AND not specified

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 10, 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:: RCV000239273.1

Allele description

NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg)

Gene:

PROKR2:prokineticin receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.3

Genomic location:

Preferred name:

NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg)

HGVS:

NC_000020.11:g.5302677A>C
NG_008132.1:g.16693T>G
NM_144773.3:c.518T>G
NP_658986.1:p.Leu173Arg
NC_000020.10:g.5283323A>C
NM_144773.2:c.518T>G
Q8NFJ6:p.Leu173Arg

Protein change:

L173R; LEU173ARG

Links:

UniProtKB: Q8NFJ6#VAR_030960; OMIM: 607123.0001; dbSNP: rs74315416

GMAF:

0.0010(C), 74315416

NCBI 1000 Genomes Browser:

rs74315416

Allele Frequency:

0.00225(C), GO-ESP

Molecular consequence:

NM_144773.3:c.518T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000297378	Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Likely benign (Nov 10, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297378

Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Likely benign
(Nov 10, 2015)

unknown

clinical testing

DGD_Variant_Analysis_Guidelines.docx

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

Details of each submission

From Division of Genomic Diagnostics,The Children's Hospital of Philadelphia, SCV000297378.2

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

#	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 19, 2017

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