NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg) AND Hydatidiform mole, recurrent, 1

Germline classification:: Uncertain significance (1 submission)
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:: RCV003338004.2

Allele description [Variation Report for NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg)]

NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg)

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.2002T>C (p.Cys668Arg)

HGVS:

NC_000019.10:g.54938171A>G
NG_008056.1:g.14335T>C
NG_008056.2:g.33073T>C
NM_001127255.2:c.2002T>CMANE SELECT
NM_001405531.1:c.2002T>C
NM_139176.4:c.1932-14T>C
NM_206828.4:c.2002T>C
NP_001120727.1:p.Cys668Arg
NP_001120727.1:p.Cys668Arg
NP_001392460.1:p.Cys668Arg
NP_996611.2:p.Cys668Arg
NC_000019.9:g.55449539A>G
NM_001127255.1:c.2002T>C

Protein change:

C668R

Molecular consequence:

NM_139176.4:c.1932-14T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001127255.2:c.2002T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001405531.1:c.2002T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_206828.4:c.2002T>C - 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
SCV004048506	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004048506

Neuberg Centre For Genomic Medicine, NCGM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Neuberg Centre For Genomic Medicine, NCGM, SCV004048506.1

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

Description

The missense variant c.2002T>C (p.Cys668Arg) in NLRP7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Cys668Arg variant is reported with the allele frequency (0.0003%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Cys at position 668 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Cys668Arg in NLRP7 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS)

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

Last Updated: Apr 6, 2024

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