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NM_001394894.2(NLRP11):c.1567T>C (p.Trp523Arg) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 5, 2023
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:
RCV004495421.1

Allele description [Variation Report for NM_001394894.2(NLRP11):c.1567T>C (p.Trp523Arg)]

NM_001394894.2(NLRP11):c.1567T>C (p.Trp523Arg)

Gene:
NLRP11:NLR family pyrin domain containing 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.43
Genomic location:
Preferred name:
NM_001394894.2(NLRP11):c.1567T>C (p.Trp523Arg)
HGVS:
  • NC_000019.10:g.55809043A>G
  • NG_054722.1:g.32720T>C
  • NM_001297743.3:c.1270T>C
  • NM_001385451.2:c.1567T>C
  • NM_001385453.2:c.1567T>C
  • NM_001394894.2:c.1567T>CMANE SELECT
  • NM_145007.5:c.1567T>C
  • NP_001284672.1:p.Trp424Arg
  • NP_001372380.1:p.Trp523Arg
  • NP_001372382.1:p.Trp523Arg
  • NP_001381823.1:p.Trp523Arg
  • NP_659444.2:p.Trp523Arg
  • NC_000019.9:g.56320409A>G
  • NM_145007.3:c.1567T>C
  • NR_169620.2:n.1758T>C
  • NR_169621.2:n.2091T>C
Protein change:
W424R
Molecular consequence:
  • NM_001297743.3:c.1270T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385451.2:c.1567T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385453.2:c.1567T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394894.2:c.1567T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145007.5:c.1567T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_169620.2:n.1758T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169621.2:n.2091T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004989728Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004989728.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024