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NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2021
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:
RCV002482527.1

Allele description [Variation Report for NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)]

NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)

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.797A>G (p.Asn266Ser)
HGVS:
  • NC_000003.12:g.30671980A>G
  • NG_007490.1:g.70479A>G
  • NM_001024847.3:c.872A>G
  • NM_001407126.1:c.980A>G
  • NM_001407127.1:c.905A>G
  • NM_001407128.1:c.824A>G
  • NM_001407129.1:c.800A>G
  • NM_001407130.1:c.797A>G
  • NM_001407132.1:c.692A>G
  • NM_001407133.1:c.692A>G
  • NM_001407134.1:c.692A>G
  • NM_001407135.1:c.692A>G
  • NM_001407136.1:c.692A>G
  • NM_001407137.1:c.512A>G
  • NM_001407138.1:c.437A>G
  • NM_003242.6:c.797A>GMANE SELECT
  • NP_001020018.1:p.Asn291Ser
  • NP_001020018.1:p.Asn291Ser
  • NP_001394055.1:p.Asn327Ser
  • NP_001394056.1:p.Asn302Ser
  • NP_001394057.1:p.Asn275Ser
  • NP_001394058.1:p.Asn267Ser
  • NP_001394059.1:p.Asn266Ser
  • NP_001394061.1:p.Asn231Ser
  • NP_001394062.1:p.Asn231Ser
  • NP_001394063.1:p.Asn231Ser
  • NP_001394064.1:p.Asn231Ser
  • NP_001394065.1:p.Asn231Ser
  • NP_001394066.1:p.Asn171Ser
  • NP_001394067.1:p.Asn146Ser
  • NP_003233.4:p.Asn266Ser
  • LRG_779t1:c.872A>G
  • LRG_779t2:c.797A>G
  • LRG_779:g.70479A>G
  • LRG_779p1:p.Asn291Ser
  • LRG_779p2:p.Asn266Ser
  • NC_000003.11:g.30713472A>G
  • NM_001024847.2:c.872A>G
Protein change:
N146S
Links:
dbSNP: rs753184709
NCBI 1000 Genomes Browser:
rs753184709
Molecular consequence:
  • NM_001024847.3:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407126.1:c.980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407127.1:c.905A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407128.1:c.824A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407129.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407130.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407132.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407133.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407134.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407135.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407136.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407137.1:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407138.1:c.437A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003242.6:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Loeys-Dietz syndrome 2 (LDS2)
Synonyms:
Loeys-Dietz syndrome type 1B; MARFAN SYNDROME, TYPE II; Loeys-Dietz syndrome type 2B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012427; MedGen: C2674574; Orphanet: 558; OMIM: 610168
Name:
Malignant tumor of esophagus
Synonyms:
Esophageal cancer; Esophagus cancer; Esophageal cancer, somatic
Identifiers:
MONDO: MONDO:0007576; MedGen: C0546837; Orphanet: 99977; OMIM: 133239
Name:
Colorectal cancer, hereditary nonpolyposis, type 6
Synonyms:
Colon cancer, hereditary nonpolyposis, type 6; Colon cancer, hereditary nonpolyposis, type 6, somatic
Identifiers:
MONDO: MONDO:0013695; MedGen: C1860896; Orphanet: 144; OMIM: 614331

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002785270Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 12, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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 Fulgent Genetics, Fulgent Genetics, SCV002785270.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024