NM_001127255.2(NLRP7):c.2011_2012delTT (p.Phe671Glnfs) AND Hydatidiform mole, recurrent, 1

delete

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 10, 2021
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:: RCV001782532.3

Allele description

NM_001127255.2(NLRP7):c.2011_2012delTT (p.Phe671Glnfs)

Genes:

NLRP7:NLR family pyrin domain containing 7 [Gene - OMIM - HGNC]
NCR1:natural cytotoxicity triggering receptor 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_001127255.2(NLRP7):c.2011_2012delTT (p.Phe671Glnfs)

HGVS:

NC_000019.10:g.54938161_54938162del
NG_008056.2:g.33082_33083del
NM_001127255.2:c.2011_2012delTT
NM_001405531.1:c.2011_2012delTT
NM_139176.3:c.1932-5_1932-4del
NM_206828.4:c.2011_2012delTT
NP_001120727.1:p.Phe671Glnfs
NP_001120727.1:p.Phe671fs
NP_001392460.1:p.Phe671Glnfs
NP_996611.2:p.Phe671Glnfs
NP_996611.2:p.Phe671fs
NC_000019.9:g.55449529_55449530del
NG_008056.1:g.14344_14345del
NM_001127255.1:c.2011_2012del
NM_206828.3:c.2011_2012del

Protein change:

F671fs

Molecular consequence:

NM_001127255.2:c.2011_2012delTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001405531.1:c.2011_2012delTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_206828.4:c.2011_2012delTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_139176.3:c.1932-5_1932-4del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002020135	PerkinElmer Genomics	no assertion criteria provided	Likely pathogenic (Jun 10, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002020135

PerkinElmer Genomics

no assertion criteria provided

Likely pathogenic
(Jun 10, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PerkinElmer Genomics, SCV002020135.1

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

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

Last Updated: Feb 25, 2023

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