chr17:43070922:A>G Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,222,939-41,222,939 View the variant detail on this assembly version.
hg38 chr17:43,070,922-43,070,922

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.4986+6T>C
NM_007299.3:c.1674+6T>C
NM_007300.3:c.5049+6T>C
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 113705 OMIM
HGNC 1100 HGNC
Ensembl ENSG00000012048 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57840912 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic breast-ovarian cancer, familial, susceptibility to germline MGS000069
(TMGS000141)
Kenjiro Kosaki
Keio University
Okayama University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-06-23 criteria provided, multiple submitters, no conflicts Breast-ovarian cancer, familial, susceptibility to, 1 germline not applicable unknown Detail
Pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2023-10-01 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2022-05-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-03-03 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Breast-ovarian cancer, familial, susceptibility to, 1 NA CLINVAR Detail
0.196 Breast Cancer, Familial NA CLINVAR Detail
0.126 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.420 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.4986+6T>C AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.4986+6T>C AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4986+6T>C AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4986+6T>C AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4986+6T>C AND Breast and/or ovarian cancer ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs80358086 dbSNP
Genome
hg38
Position
chr17:43,070,922-43,070,922
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs80358086
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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