NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 28, 2016
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:: RCV000454683.4

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000539238	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Mar 28, 2016)	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

SCV000539238

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Mar 28, 2016)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000539238.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 23.92% East Asian, with 176 homozygotes (VQSRTrancheINDEL99.00to99.50)

#	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: Dec 24, 2022

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