NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Oct 26, 2012
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000037731.22

Allele description [Variation Report for NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)]

NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)

Gene:

TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.1

Genomic location:

Preferred name:

NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)

Other names:

p.A422A:GCA>GCG

HGVS:

NC_000003.12:g.30674116A>G
NG_007490.1:g.72615A>G
NM_001024847.3:c.1341A>G
NM_001407126.1:c.1449A>G
NM_001407127.1:c.1374A>G
NM_001407128.1:c.1293A>G
NM_001407129.1:c.1269A>G
NM_001407130.1:c.1266A>G
NM_001407132.1:c.1161A>G
NM_001407133.1:c.1161A>G
NM_001407134.1:c.1161A>G
NM_001407135.1:c.1161A>G
NM_001407136.1:c.1161A>G
NM_001407137.1:c.981A>G
NM_001407138.1:c.906A>G
NM_001407139.1:c.530-14271A>G
NM_003242.6:c.1266A>GMANE SELECT
NP_001020018.1:p.Ala447=
NP_001020018.1:p.Ala447=
NP_001394055.1:p.Ala483=
NP_001394056.1:p.Ala458=
NP_001394057.1:p.Ala431=
NP_001394058.1:p.Ala423=
NP_001394059.1:p.Ala422=
NP_001394061.1:p.Ala387=
NP_001394062.1:p.Ala387=
NP_001394063.1:p.Ala387=
NP_001394064.1:p.Ala387=
NP_001394065.1:p.Ala387=
NP_001394066.1:p.Ala327=
NP_001394067.1:p.Ala302=
NP_003233.4:p.Ala422=
LRG_779t1:c.1341A>G
LRG_779t2:c.1266A>G
LRG_779:g.72615A>G
LRG_779p1:p.Ala447=
LRG_779p2:p.Ala422=
NC_000003.11:g.30715608A>G
NM_001024847.2:c.1341A>G
NM_003242.5:c.1266A>G
c.1266A>G

Links:

dbSNP: rs2228047

NCBI 1000 Genomes Browser:

rs2228047

Molecular consequence:

NM_001407139.1:c.530-14271A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001024847.3:c.1341A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407126.1:c.1449A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407127.1:c.1374A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407128.1:c.1293A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407129.1:c.1269A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407130.1:c.1266A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407132.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407133.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407134.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407135.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407136.1:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407137.1:c.981A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407138.1:c.906A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_003242.6:c.1266A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

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
SCV000061393	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jan 21, 2009)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18781618, 24033266
SCV000168943	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Oct 26, 2012)	germline	clinical testing	Citation Link,
SCV000309518	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	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

SCV000061393

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jan 21, 2009)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000168943

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Oct 26, 2012)

germline

clinical testing

Citation Link,

SCV000309518

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	10	7	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

PubMed [citation]

PMID:: 18781618

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

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061393.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		10	not provided	7	not provided

From GeneDx, SCV000168943.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000309518.1

#	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: Oct 26, 2024

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