NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 3, 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:: RCV000238958.2

Allele description [Variation Report for NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys)]

NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys)

Genes:

GTF2IRD2:GTF2I repeat domain containing 2 [Gene - OMIM - HGNC]
LOC106029312:Williams-Beuren syndrome medial block B recombination region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys)

HGVS:

NC_000007.14:g.74824984C>T
NG_042249.1:g.91148C>T
NG_053172.1:g.31593G>A
NM_001368300.2:c.793G>A
NM_001388079.1:c.307G>A
NM_001388080.1:c.307G>A
NM_001388081.1:c.307G>A
NM_001388082.1:c.307G>A
NM_001388083.1:c.307G>A
NM_001388084.1:c.307G>A
NM_001388087.1:c.307G>A
NM_001388088.1:c.307G>A
NM_001388089.1:c.307G>A
NM_173537.5:c.307G>AMANE SELECT
NP_001355229.1:p.Glu265Lys
NP_001375008.1:p.Glu103Lys
NP_001375009.1:p.Glu103Lys
NP_001375010.1:p.Glu103Lys
NP_001375011.1:p.Glu103Lys
NP_001375012.1:p.Glu103Lys
NP_001375013.1:p.Glu103Lys
NP_001375016.1:p.Glu103Lys
NP_001375017.1:p.Glu103Lys
NP_001375018.1:p.Glu103Lys
NP_775808.4:p.Glu103Lys
NC_000007.13:g.74239513C>T
NM_173537.2:c.307G>A
NR_170881.1:n.551G>A
NR_170882.1:n.551G>A
NR_170883.1:n.551G>A
NR_170884.1:n.551G>A
NR_170885.1:n.1730G>A
NR_170886.1:n.551G>A

Protein change:

E103K

Links:

dbSNP: rs375511371

NCBI 1000 Genomes Browser:

rs375511371

Molecular consequence:

NM_001368300.2:c.793G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388079.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388080.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388081.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388082.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388083.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388084.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388087.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388088.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001388089.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173537.5:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_170881.1:n.551G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170882.1:n.551G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170883.1:n.551G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170884.1:n.551G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170885.1:n.1730G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170886.1:n.551G>A - 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
SCV000297388	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Uncertain significance (Sep 3, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297388

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

criteria provided, single submitter

(DGD Variant Analysis Guidelines)

Uncertain significance
(Sep 3, 2015)

unknown

clinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000297388.3

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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