NM_000303.3(PMM2):c.*7A>G AND Corticosteroids response

Germline classification:: drug response (1 submission)
Last evaluated:: Jan 12, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001254657.1

Allele description [Variation Report for NM_000303.3(PMM2):c.*7A>G]

NM_000303.3(PMM2):c.*7A>G

Gene:

PMM2:phosphomannomutase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

Preferred name:

NM_000303.3(PMM2):c.*7A>G

HGVS:

NC_000016.10:g.8847832A>G
NG_009209.1:g.55020A>G
NM_000303.3:c.*7A>GMANE SELECT
NC_000016.9:g.8941689A>G
NM_000303.2:c.*7A>G

Links:

dbSNP: rs2060938199

NCBI 1000 Genomes Browser:

rs2060938199

Molecular consequence:

NM_000303.3:c.*7A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Corticosteroids response
Synonyms:: Corticosteroid response
Identifiers:

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arginine N-methyltransferase 1 [Schistosoma japonicum]
arginine N-methyltransferase 1 [Schistosoma japonicum]
gi|224813804|gb|ACN65119.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001430608	Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences	no assertion criteria provided	drug response (Jan 12, 2020)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001430608

Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences

no assertion criteria provided

drug response
(Jan 12, 2020)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	27	not provided	not provided	not provided	not provided	research

Details of each submission

From Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences, SCV001430608.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	27	not provided	not provided	research	not provided

Description

Depending upon patients response to standard corticosteroids therapy, they were classified to be either Steroid resistance(SRNS) or steroid sensitive(SSNS)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		27	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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