NM_003470.3(USP7):c.1794dup (p.Asn599fs) AND not provided

Germline classification:: Pathogenic (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:: RCV001281656.2

Allele description [Variation Report for NM_003470.3(USP7):c.1794dup (p.Asn599fs)]

NM_003470.3(USP7):c.1794dup (p.Asn599fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

16p13.2

Genomic location:

Preferred name:

NM_003470.3(USP7):c.1794dup (p.Asn599fs)

HGVS:

NC_000016.10:g.8903313dup
NG_046847.1:g.65172dup
NM_001286457.2:c.1746dup
NM_001286458.2:c.1497dup
NM_001321858.2:c.1620dup
NM_003470.3:c.1794dupMANE SELECT
NP_001273386.2:p.Asn583fs
NP_001273387.1:p.Asn500fs
NP_001308787.1:p.Asn541fs
NP_003461.2:p.Asn599fs
NC_000016.9:g.8997170dup
NM_001286458.1:c.1497dup
NR_135826.2:n.1775dup

Protein change:

N500fs

Links:

dbSNP: rs2549226325

NCBI 1000 Genomes Browser:

rs2549226325

Molecular consequence:

NM_001286457.2:c.1746dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286458.2:c.1497dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001321858.2:c.1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003470.3:c.1794dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_135826.2:n.1775dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001468997	Laboratoire de Génétique Moléculaire, CHU Bordeaux	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	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

SCV001468997

Laboratoire de Génétique Moléculaire, CHU Bordeaux

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

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 Laboratoire de Génétique Moléculaire, CHU Bordeaux, SCV001468997.1

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

#	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: May 16, 2025

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