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NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg) AND TRPM3-associated epilepsy syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2021
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:
RCV002266765.1

Allele description [Variation Report for NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg)]

NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg)

Gene:
TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.12
Genomic location:
Preferred name:
NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg)
HGVS:
  • NC_000009.12:g.70620229T>C
  • NG_047197.1:g.831696A>G
  • NM_001007471.4:c.1940A>G
  • NM_001366141.2:c.1946A>G
  • NM_001366142.2:c.1982A>G
  • NM_001366143.2:c.1946A>G
  • NM_001366145.2:c.1976A>GMANE SELECT
  • NM_001366146.2:c.1976A>G
  • NM_001366147.2:c.2051A>G
  • NM_001366148.2:c.2021A>G
  • NM_001366149.2:c.1946A>G
  • NM_001366150.2:c.1910A>G
  • NM_001366151.2:c.1940A>G
  • NM_001366152.2:c.2051A>G
  • NM_001366154.2:c.1517A>G
  • NM_020952.6:c.1481A>G
  • NM_024971.7:c.1517A>G
  • NM_206944.5:c.1451A>G
  • NM_206945.5:c.1487A>G
  • NM_206946.5:c.1556A>G
  • NM_206947.5:c.1526A>G
  • NP_001007472.2:p.Lys647Arg
  • NP_001353070.1:p.Lys649Arg
  • NP_001353071.1:p.Lys661Arg
  • NP_001353072.1:p.Lys649Arg
  • NP_001353074.1:p.Lys659Arg
  • NP_001353075.1:p.Lys659Arg
  • NP_001353076.1:p.Lys684Arg
  • NP_001353077.1:p.Lys674Arg
  • NP_001353078.1:p.Lys649Arg
  • NP_001353079.1:p.Lys637Arg
  • NP_001353080.1:p.Lys647Arg
  • NP_001353081.1:p.Lys684Arg
  • NP_001353083.1:p.Lys506Arg
  • NP_066003.3:p.Lys494Arg
  • NP_079247.5:p.Lys506Arg
  • NP_996827.3:p.Lys484Arg
  • NP_996828.3:p.Lys496Arg
  • NP_996829.3:p.Lys519Arg
  • NP_996830.3:p.Lys509Arg
  • NC_000009.11:g.73235145T>C
  • NM_001366145.1:c.1976A>G
Protein change:
K484R
Links:
dbSNP: rs2133197810
NCBI 1000 Genomes Browser:
rs2133197810
Molecular consequence:
  • NM_001007471.4:c.1940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366141.2:c.1946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366142.2:c.1982A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366143.2:c.1946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366145.2:c.1976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366146.2:c.1976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366147.2:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366148.2:c.2021A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366149.2:c.1946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366150.2:c.1910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366151.2:c.1940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366152.2:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001366154.2:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020952.6:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024971.7:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206944.5:c.1451A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206945.5:c.1487A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206946.5:c.1556A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206947.5:c.1526A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
TRPM3-associated epilepsy syndrome
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002548860New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Aug 20, 2021)
inheritedclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548860.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023