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NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 12, 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:
RCV002521253.2

Allele description [Variation Report for NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His)]

NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His)

Genes:
NLRP7:NLR family pyrin domain containing 7 [Gene - OMIM - HGNC]
NCR1:natural cytotoxicity triggering receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_001127255.2(NLRP7):c.2384G>A (p.Arg795His)
HGVS:
  • NC_000019.10:g.54934576C>T
  • NG_008056.1:g.17930G>A
  • NM_001127255.2:c.2384G>AMANE SELECT
  • NM_001405531.1:c.2384G>A
  • NM_139176.4:c.2300G>A
  • NM_206828.4:c.2384G>A
  • NP_001120727.1:p.Arg795His
  • NP_001120727.1:p.Arg795His
  • NP_001392460.1:p.Arg795His
  • NP_631915.2:p.Arg767His
  • NP_631915.2:p.Arg767His
  • NP_996611.2:p.Arg795His
  • NP_996611.2:p.Arg795His
  • NC_000019.9:g.55445944C>T
  • NM_001127255.1:c.2384G>A
  • NM_139176.3:c.2300G>A
  • NM_206828.3:c.2384G>A
Protein change:
R767H
Links:
dbSNP: rs200965650
NCBI 1000 Genomes Browser:
rs200965650
Molecular consequence:
  • NM_001127255.2:c.2384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001405531.1:c.2384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139176.4:c.2300G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206828.4:c.2384G>A - 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
SCV003708911Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 12, 2022) 		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, SCV003708911.2

#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 1, 2024