NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser) AND Hydatidiform mole, recurrent, 1

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:: RCV000001660.8

Allele description [Variation Report for NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser)]

NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser)

Gene:

NLRP7:NLR family pyrin domain containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser)

HGVS:

NC_000019.10:g.54938222G>A
NG_008056.2:g.33022C>T
NM_001127255.2:c.1951C>TMANE SELECT
NM_001405531.1:c.1951C>T
NM_139176.4:c.1932-65C>T
NM_206828.4:c.1951C>T
NP_001120727.1:p.Pro651Ser
NP_001120727.1:p.Pro651Ser
NP_001392460.1:p.Pro651Ser
NP_996611.2:p.Pro651Ser
NC_000019.9:g.55449590G>A
NG_008056.1:g.14284C>T
NM_001127255.1:c.1951C>T
Q8WX94:p.Pro651Ser

Protein change:

P651S; PRO651SER

Links:

UniProtKB: Q8WX94#VAR_059036; OMIM: 609661.0010; dbSNP: rs104895549

NCBI 1000 Genomes Browser:

rs104895549

Molecular consequence:

NM_139176.4:c.1932-65C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001127255.2:c.1951C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001405531.1:c.1951C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_206828.4:c.1951C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hydatidiform mole, recurrent, 1 (HYDM1)
Synonyms:: Gestational trophoblastic neoplasia
Identifiers:: MONDO: MONDO:0009273; MedGen: C3463897; Orphanet: 254688; Orphanet: 99927; OMIM: 231090

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021816	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10951527, 19246479
SCV000116102	Unité médicale des maladies autoinflammatoires, CHRU Montpellier	no classification provided	not provided	unknown	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021816

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2009)

germline

literature only

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

SCV000116102

Unité médicale des maladies autoinflammatoires, CHRU Montpellier

no classification provided

not provided

unknown

not provided

Help

Summary from all submissions

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

Citations

PubMed

Mole maker phenotype: possible narrowing of the candidate region.

Sensi A, Gualandi F, Pittalis MC, Calabrese O, Falciano F, Maestri I, Bovicelli L, Calzolari E.

Eur J Hum Genet. 2000 Aug;8(8):641-4.

PubMed [citation]

PMID:: 10951527

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

Details of each submission

From OMIM, SCV000021816.2

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

Description

In 2 Italian sisters with recurrent complete hydatidiform mole (HYDM1; 231090), previously reported by Sensi et al. (2000), Wang et al. (2009) identified homozygosity for a 1951C-T transition in the NLRP7 gene, resulting in a pro651-to-ser (P651S) substitution. Their parents were heterozygous for the mutation, which was not 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, SCV000116102.1

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

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

Last Updated: Jun 23, 2024

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