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NM_000852.4(GSTP1):c.336+79_336+80delinsCA AND Kala-azar susceptibility 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 14, 2017
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:
RCV000677248.3

Allele description

NM_000852.4(GSTP1):c.336+79_336+80delinsCA

Gene:
GSTP1:glutathione S-transferase pi 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000852.4(GSTP1):c.336+79_336+80delinsCA
HGVS:
  • NC_000011.10:g.67585320_67585321delinsCA
  • NG_012075.1:g.6726_6727delinsCA
  • NM_000852.4:c.336+79_336+80delinsCAMANE SELECT
  • LRG_723:g.6726_6727delinsCA
  • NC_000011.9:g.67352791_67352792delinsCA
Links:
dbSNP: rs1555022268
NCBI 1000 Genomes Browser:
rs1555022268
Molecular consequence:
  • NM_000852.4:c.336+79_336+80delinsCA - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
variation affecting protein [Variation Ontology: 0002]

Condition(s)

Name:
Kala-azar susceptibility 2 (KAZA2)
Synonyms:
KALA-AZAR, SUSCEPTIBILITY TO, 2; LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 2
Identifiers:
MONDO: MONDO:0012660; MedGen: C1969649; OMIM: 611381

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611105Research Laboratory, University Department of Zoology, Vinoba Bhave University
no assertion criteria provided
Likely pathogenic
(Sep 14, 2017) 		not applicableresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedresearch

Details of each submission

From Research Laboratory, University Department of Zoology, Vinoba Bhave University, SCV000611105.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Results attached in the document. Novel Mutation Observed i.e. Change in Coding frame (Ser122Gln) and in nucleotide (TC to CA) in Exon-5 of GSTP1 gene in Clinical Isolates of Visceral Leishmaniasis from Endemic Population of India has certainly a clinical relevance. We have yet to ascertain the exact functional and clinical relevance but we found two important finding in terms of clinical significance. Firstly, observed frame shift mutation (changing the protein sequence (S to Q amino acid) and also double mutation in nucleotide i.e. TC to CA position in addition to investigated and known mutation Ile105Val (G to A) and have shown very strong genetic association (OR=5.1; p=0.008) with primary infection and reasonably strong genetic association (OR=3.2; p=0.04) with relapse infection in endemic population. However, we are in a process to investigate in larger sample size.

Description

Novel Mutation Observed i.e. Change in Coding frame (Ser122Gln) and in nucleotide (TC to CA) in Exon-5 of GSTP1 gene in Clinical Isolates of Visceral Leishmaniasis from Endemic Population of India has certainly a clinical relevance. We have yet to ascertain the exact functional and clinical relevance but we found two important finding in terms of clinical significance. Firstly, observed frame shift mutation (changing the protein sequence (S to Q amino acid) and also double mutation in nucleotide i.e. TC to CA position in addition to investigated and known mutation Ile105Val (G to A) and have shown very strong genetic association (OR=5.1; p=0.008) with primary infection and reasonably strong genetic association (OR=3.2; p=0.04) with relapse infection in endemic population. However, we are in a process to investigate in larger sample size. Secondly, this observation may serve as clinico-epidemiological marker for prospective diagnostic marker in due course of time in addition to existing molecular markers.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providedGenomic DNA from Blood (Clinical Isolates)not providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024