NM_001127255.1(NLRP7):c.2078G>A (p.Arg693Gln) AND Hydatidiform mole

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 1, 2009
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000001658.4

Allele description

NM_001127255.1(NLRP7):c.2078G>A (p.Arg693Gln)

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_001127255.1(NLRP7):c.2078G>A (p.Arg693Gln)

HGVS:

NC_000019.10:g.54938095C>T
NG_008056.1:g.14411G>A
NM_001127255.1:c.2078G>A
NP_001120727.1:p.Arg693Gln
NC_000019.9:g.55449463C>T
Q8WX94:p.Arg693Gln

Protein change:

R693Q; ARG693GLN

Links:

UniProtKB: Q8WX94#VAR_059037; OMIM: 609661.0008; dbSNP: rs104895502

NCBI 1000 Genomes Browser:

rs104895502

Molecular consequence:

NM_001127255.1:c.2078G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hydatidiform mole (HYDM1)
Synonyms:: Hydatidiform mole, recurrent; HYDATIDIFORM MOLE, COMPLETE; Hydatidiform Moles
Identifiers:: MedGen: C2931618; Orphanet: 254688; Orphanet: 99927; OMIM: 231090

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021814	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16239310, 19246479
SCV000116107	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021814

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2009)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000116107

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole.

Zhao J, Moss J, Sebire NJ, Cui QC, Seckl MJ, Xiang Y, Fisher RA.

Hum Reprod. 2006 Feb;21(2):536-41. Epub 2005 Oct 20.

PubMed [citation]

PMID:: 16239310

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

Wang CM, Dixon PH, Decordova S, Hodges MD, Sebire NJ, Ozalp S, Fallahian M, Sensi A, Ashrafi F, Repiska V, Zhao J, Xiang Y, Savage PM, Seckl MJ, Fisher RA.

J Med Genet. 2009 Aug;46(8):569-75. doi: 10.1136/jmg.2008.064196. Epub 2009 Feb 25.

PubMed [citation]

PMID:: 19246479

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000021814.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a Chinese proband with recurrent complete hydatidiform mole (HYDM; 231090), previously studied by Zhao et al. (2006), Wang et al. (2009) identified compound heterozygosity for the R432X mutation (609661.0006) and a 2078G-A transition in the NLRP7 gene, resulting in an arg693-to-gln (R693Q) substitution. The proband's sister, who also had recurrent HYDM, was unavailable for screening. The unaffected parents were each heterozygous for 1 of the mutations, respectively; neither mutation was found in 192 Caucasian or 198 Asian control chromosomes.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000116107.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2018

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