chr3:30682939:G>C Detail (hg19) (TGFBR2)

Information

Genome

Assembly Position
hg19 chr3:30,682,939-30,682,939
hg38 chr3:30,641,447-30,641,447 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003242.5:c.95-3300G>C
NM_001024847.2:c.170-3300G>C
Ensemble ENST00000295754.10:c.95-3300G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.640
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 190182 OMIM
HGNC 11773 HGNC
Ensembl ENSG00000163513 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11923973 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter Familial thoracic aortic aneurysm and aortic dissection germline Detail
Benign 2019-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 Malignant neoplasm of breast Large-scale genotyping identifies 41 new loci associated with breast cancer risk... GWASCAT 23535729 Detail
0.240 Malignant neoplasm of breast Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR... BeFree 25007960 Detail
0.080 breast carcinoma Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR... BeFree 25007960 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003242.6(TGFBR2):c.95-3300G>C AND Familial thoracic aortic aneurysm and aortic dissection ClinVar Detail
NM_003242.6(TGFBR2):c.95-3300G>C AND not provided ClinVar Detail
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. DisGeNET Detail
Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overex... DisGeNET Detail
Of the four breast cancer subtypes, the associations of rs12493607 (3p24.1/TGFBR2) with HER-2 overex... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12493607 dbSNP
Genome
hg19
Position
chr3:30,682,939-30,682,939
Variant Type
snv
Reference Allele
G
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12493607
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6403
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10732
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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