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NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND Respiratory papillomatosis, juvenile recurrent, congenital

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 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:
RCV001781177.2

Allele description [Variation Report for NM_033004.4(NLRP1):c.464T>A (p.Leu155His)]

NM_033004.4(NLRP1):c.464T>A (p.Leu155His)

Gene:
NLRP1:NLR family pyrin domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_033004.4(NLRP1):c.464T>A (p.Leu155His)
HGVS:
  • NC_000017.11:g.5582047A>T
  • NG_011651.1:g.7466T>A
  • NM_001033053.3:c.464T>A
  • NM_014922.5:c.464T>A
  • NM_033004.4:c.464T>AMANE SELECT
  • NM_033006.4:c.464T>A
  • NM_033007.4:c.464T>A
  • NP_001028225.1:p.Leu155His
  • NP_055737.1:p.Leu155His
  • NP_127497.1:p.Leu155His
  • NP_127499.1:p.Leu155His
  • NP_127500.1:p.Leu155His
  • NC_000017.10:g.5485367A>T
  • Q9C000:p.Leu155His
Protein change:
L155H; LEU155HIS
Links:
UniProtKB: Q9C000#VAR_033239; OMIM: 606636.0001; dbSNP: rs12150220
NCBI 1000 Genomes Browser:
rs12150220
Molecular consequence:
  • NM_001033053.3:c.464T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014922.5:c.464T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033004.4:c.464T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033006.4:c.464T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033007.4:c.464T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Respiratory papillomatosis, juvenile recurrent, congenital
Identifiers:
MONDO: MONDO:0032925; MedGen: C5394112; OMIM: 618803

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002026793Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002026793.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024