NM_003470.3(USP7):c.841A>G (p.Lys281Glu) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 23, 2019
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:: RCV001755644.2

Allele description [Variation Report for NM_003470.3(USP7):c.841A>G (p.Lys281Glu)]

NM_003470.3(USP7):c.841A>G (p.Lys281Glu)

Gene:

USP7:ubiquitin specific peptidase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.2

Genomic location:

Preferred name:

NM_003470.3(USP7):c.841A>G (p.Lys281Glu)

HGVS:

NC_000016.10:g.8917036T>C
NG_046847.1:g.51449A>G
NM_001286457.2:c.793A>G
NM_001286458.2:c.544A>G
NM_001321858.2:c.667A>G
NM_003470.2:c.841A>G
NM_003470.3:c.841A>GMANE SELECT
NP_001273386.2:p.Lys265Glu
NP_001273387.1:p.Lys182Glu
NP_001308787.1:p.Lys223Glu
NP_003461.2:p.Lys281Glu
NC_000016.9:g.9010893T>C
NM_001286457.1:c.793A>G
NR_135826.2:n.863A>G

Protein change:

K182E

Links:

dbSNP: rs2141203936

NCBI 1000 Genomes Browser:

rs2141203936

Molecular consequence:

NM_001286457.2:c.793A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286458.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321858.2:c.667A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003470.3:c.841A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_135826.2:n.863A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002005233	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 23, 2019)	germline	clinical testing	Citation Link,
SCV004031335	Molecular Genetics laboratory, Necker Hospital	no assertion criteria provided	Likely pathogenic (Apr 8, 2019)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002005233

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 23, 2019)

germline

clinical testing

Citation Link,

SCV004031335

Molecular Genetics laboratory, Necker Hospital

no assertion criteria provided

Likely pathogenic
(Apr 8, 2019)

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002005233.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

#	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

From Molecular Genetics laboratory, Necker Hospital, SCV004031335.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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