NM_001024847.2(TGFBR2):c.338+7A>G AND not provided

replaced

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 1, 2012
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:: RCV000125484.1

Allele description

NM_001024847.2(TGFBR2):c.338+7A>G

Gene:

TGFBR2:transforming growth factor, beta receptor II (70/80kDa) [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

Preferred name:

NM_001024847.2(TGFBR2):c.338+7A>G

HGVS:

NC_000003.12:g.30644922A>G
NG_007490.1:g.43421A>G
NM_001024847.2:c.338+7A>G
NM_003242.5:c.263+7A>G
NC_000003.11:g.30686414A>G
c.263+7A>G

Links:

dbSNP: rs1155705

GMAF:

0.4129(G), 1155705

NCBI 1000 Genomes Browser:

rs1155705

Allele Frequency:

0.3215, GO-ESP

Molecular consequence:

NM_001024847.2:c.338+7A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000168936	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Nov 1, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000168936

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Nov 1, 2012)

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

Details of each submission

From GeneDx, SCV000168936.1

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

Description

The variant is found in TAAD panel(s).

#	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: Oct 1, 2015

ClinVar

Relating variation to medicine