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NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 2022
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:
RCV002530854.2

Allele description [Variation Report for NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)]

NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)

Gene:
PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)
Other names:
p.Arg6Cys
HGVS:
  • NC_000022.11:g.38169411G>A
  • NG_007094.3:g.50368C>T
  • NM_001004426.3:c.16C>T
  • NM_001199562.3:c.16C>T
  • NM_001349864.2:c.16C>T
  • NM_001349865.2:c.16C>T
  • NM_001349866.2:c.16C>T
  • NM_001349867.2:c.-650C>T
  • NM_001349868.2:c.-475C>T
  • NM_001349869.2:c.-650C>T
  • NM_003560.4:c.16C>TMANE SELECT
  • NP_001004426.1:p.Arg6Cys
  • NP_001186491.1:p.Arg6Cys
  • NP_001336793.1:p.Arg6Cys
  • NP_001336794.1:p.Arg6Cys
  • NP_001336795.1:p.Arg6Cys
  • NP_003551.2:p.Arg6Cys
  • LRG_1015t1:c.16C>T
  • LRG_1015:g.50368C>T
  • LRG_1015p1:p.Arg6Cys
  • NC_000022.10:g.38565418G>A
  • NG_007094.2:g.41280C>T
  • NM_003560.2:c.16C>T
  • NM_003560.3:c.16C>T
Protein change:
R6C
Links:
dbSNP: rs143250889
NCBI 1000 Genomes Browser:
rs143250889
Molecular consequence:
  • NM_001349867.2:c.-650C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349868.2:c.-475C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001349869.2:c.-650C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001004426.3:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199562.3:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349864.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349865.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349866.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003560.4:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003696408Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 27, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Mahdieh N, Soveizi M, Tavasoli AR, Rabbani A, Ashrafi MR, Kohlschütter A, Rabbani B.

Sci Rep. 2021 Feb 5;11(1):3231. doi: 10.1038/s41598-021-82778-0.

PubMed [citation]
PMID:
33547378
PMCID:
PMC7864965

Details of each submission

From Ambry Genetics, SCV003696408.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.16C>T (p.R6C) alteration is located in exon 2 (coding exon 1) of the PLA2G6 gene. This alteration results from a C to T substitution at nucleotide position 16, causing the arginine (R) at amino acid position 6 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024