NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 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:: RCV000984826.5

Allele description [Variation Report for NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs)]

NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs)

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs)

HGVS:

NC_000003.12:g.128481302_128481303dup
NG_029334.1:g.16885_16886dup
NM_001145661.2:c.1159_1160dup
NM_001145662.1:c.1117_1118dup
NM_032638.5:c.1159_1160dupMANE SELECT
NP_001139133.1:p.Met388fs
NP_001139134.1:p.Met374fs
NP_116027.2:p.Met388fs
LRG_295t1:c.1159_1160dup
LRG_295:g.16885_16886dup
NC_000003.11:g.128200145_128200146dup
NM_001145661.1:c.1159_1160dupAC

Protein change:

M374fs

Links:

dbSNP: rs1576744575

NCBI 1000 Genomes Browser:

rs1576744575

Molecular consequence:

NM_001145661.2:c.1159_1160dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145662.1:c.1117_1118dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032638.5:c.1159_1160dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV001132709	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 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

SCV001132709

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 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

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 PreventionGenetics, part of Exact Sciences, SCV001132709.1

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

Last Updated: Mar 10, 2024

ClinVar

Relating variation to medicine