NM_139276.3(STAT3):c.*264dup AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 1, 2022
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:: RCV003422284.10

Allele description [Variation Report for NM_139276.3(STAT3):c.*264dup]

NM_139276.3(STAT3):c.*264dup

Gene:

STAT3:signal transducer and activator of transcription 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_139276.3(STAT3):c.*264dup

HGVS:

NC_000017.11:g.42315486dup
NG_007370.1:g.78015dup
NM_001369512.1:c.*264dup
NM_001369513.1:c.*264dup
NM_001369514.1:c.*264dup
NM_001369516.1:c.*264dup
NM_001369517.1:c.*358dup
NM_001369518.1:c.*358dup
NM_001369519.1:c.*358dup
NM_001369520.1:c.*358dup
NM_001384984.1:c.*264dup
NM_001384985.1:c.*264dup
NM_001384986.1:c.*358dup
NM_001384987.1:c.*264dup
NM_001384988.1:c.*264dup
NM_001384989.1:c.*264dup
NM_001384990.1:c.*358dup
NM_001384991.1:c.*264dup
NM_001384992.1:c.*264dup
NM_001384993.1:c.*264dup
NM_003150.4:c.*264dup
NM_139276.3:c.*264dupMANE SELECT
NM_213662.2:c.*358dup
LRG_112:g.78015dup
NC_000017.10:g.40467504dup
NM_139276.2:c.*264dupG

Links:

dbSNP: rs554015274

NCBI 1000 Genomes Browser:

rs554015274

Molecular consequence:

NM_001369512.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369513.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369514.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369516.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369517.1:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369518.1:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369519.1:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001369520.1:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384984.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384985.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384986.1:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384987.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384988.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384989.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384990.1:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384991.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384992.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001384993.1:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_003150.4:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_139276.3:c.*264dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_213662.2:c.*358dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

PsbZ (chloroplast) [Alysicarpus vaginalis]
PsbZ (chloroplast) [Alysicarpus vaginalis]
gi|2088257987|ref|YP_010158883.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004138362	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Aug 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004138362

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Aug 1, 2022)

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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004138362.10

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

Description

STAT3: BS1, BS2

#	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		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine