chr17:43063930:C>T Detail (hg38) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,215,947-41,215,947 View the variant detail on this assembly version.
hg38 chr17:43,063,930-43,063,930

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.5096G>A NP_009225.1:p.Arg1699Gln
NM_007299.3:c.1784G>A NP_009230.2:p.Arg595Gln
NM_007300.3:c.5159G>A NP_009231.2:p.Arg1720Gln
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 3
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:<0.001

Prediction

ClinVar

Clinical Significance 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 tgv57840523 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic 2021/05/14 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2021/05/14 hereditary breast and ovarian cancer syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely pathogenic 2021/05/14 malignant neoplasm of ovary germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-05-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 unknown germline maternal Detail
Pathogenic Likely pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2024-02-22 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Pathogenic low penetrance 2024-01-28 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Likely pathogenic 2023-04-06 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary germline Detail
Likely pathogenic no assertion criteria provided Familial cancer of breast germline Detail
Pathogenic 2021-11-24 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2021-11-24 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1,Familial cancer of breast,Fanconi anemia, complementation group S,Pancreatic cancer, susceptibility to, 4 unknown Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Likely pathogenic 2024-01-12 criteria provided, single submitter BRCA1-related disorder 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
0.280 Malignant neoplasm of ovary BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermed... BeFree 22889855 Detail
0.080 breast carcinoma Measures of genetic risk (report of family history, segregation) were assessed f... BeFree 22889855 Detail
0.360 Malignant neoplasm of breast Measures of genetic risk (report of family history, segregation) were assessed f... BeFree 22889855 Detail
0.082 ovarian carcinoma BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermed... BeFree 22889855 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Breast and/or ovarian cancer ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Neoplasm of ovary ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND Gastric cancer ClinVar Detail
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) AND BRCA1-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovar... DisGeNET Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&... DisGeNET Detail
Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G&... DisGeNET Detail
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovar... 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
rs41293459 dbSNP
Genome
hg38
Position
chr17:43,063,930-43,063,930
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs41293459
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8596
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120308
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.493599760614423E-5
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