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NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 8, 2016
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:
RCV000487229.1

Allele description [Variation Report for NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys)]

NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys)

Gene:
NLRC4:NLR family CARD domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.3
Genomic location:
Preferred name:
NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys)
HGVS:
  • NC_000002.12:g.32251244C>T
  • NG_041780.1:g.19500G>A
  • NM_001199138.2:c.620G>AMANE SELECT
  • NM_001199139.1:c.620G>A
  • NM_001302504.1:c.262+1175G>A
  • NM_021209.4:c.620G>A
  • NP_001186067.1:p.Arg207Lys
  • NP_001186068.1:p.Arg207Lys
  • NP_067032.3:p.Arg207Lys
  • LRG_1317t1:c.620G>A
  • LRG_1317:g.19500G>A
  • LRG_1317p1:p.Arg207Lys
  • NC_000002.11:g.32476313C>T
Protein change:
R207K
Links:
dbSNP: rs1064795274
NCBI 1000 Genomes Browser:
rs1064795274
Molecular consequence:
  • NM_001302504.1:c.262+1175G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199138.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199139.1:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021209.4:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000570928GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 8, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000570928.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R207K variant in the NLRC4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R207K variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R207K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. The R207K variant is a strong candidate for a pathogenic variant

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

Last Updated: Apr 23, 2022