NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) AND Parkinson disease 11, autosomal dominant, susceptibility to

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 26, 2015
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:: RCV000625223.4

Allele description [Variation Report for NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)]

NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)

Gene:

GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2q37.1

Genomic location:

Preferred name:

NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)

HGVS:

NC_000002.12:g.232847516_232847517insGC
NG_011847.1:g.155212_155213insGC
NM_001103146.3:c.3629_3630insGCMANE SELECT
NM_001103147.2:c.3692_3693insGC
NM_001103148.2:c.3611_3612insGC
NM_015575.4:c.3629_3630insGC
NP_001096616.1:p.Gln1211fs
NP_001096617.1:p.Gln1232fs
NP_001096618.1:p.Gln1205fs
NP_056390.2:p.Gln1211fs
NC_000002.11:g.233712226_233712227insGC
NM_001103146.1:c.3628_3629insCG
NM_001103147.1:c.3692_3693insGC
NM_015575.3:c.3629_3630insGC
NR_103492.1:n.3587_3588insGC
p.Gln1232HisfsX25

Protein change:

Q1205fs

Links:

dbSNP: rs371622656

NCBI 1000 Genomes Browser:

rs371622656

Molecular consequence:

NM_001103146.3:c.3629_3630insGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001103147.2:c.3692_3693insGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001103148.2:c.3611_3612insGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015575.4:c.3629_3630insGC - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103492.1:n.3587_3588insGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Parkinson disease 11, autosomal dominant, susceptibility to
Synonyms:: Parkinson disease 11
Identifiers:: MONDO: MONDO:0011896; MedGen: C4083045; Orphanet: 411602; OMIM: 607688

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000744183	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Mar 26, 2015)	germline	clinical testing	Citation Link,
SCV000745614	Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus	no assertion criteria provided (ACGS Guidelines, 2013)	Likely benign (Apr 22, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000744183

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Benign
(Mar 26, 2015)

germline

clinical testing

Citation Link,

SCV000745614

Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus

no assertion criteria provided

(ACGS Guidelines, 2013)

Likely benign
(Apr 22, 2016)

germline

clinical testing

Citation Link

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744183.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV000745614.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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