chr17:41245471:C>T Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,245,471-41,245,471
hg38 chr17:43,093,454-43,093,454 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007299.3:c.787+1290G>A
NM_007300.3:c.2077G>A NP_009231.2:p.Asp693Asn
NM_007298.3:c.787+1290G>A
Summary

MGeND

Clinical significance Likely benign
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:<0.001

Prediction

ClinVar

Clinical Significance Benign
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 tgv57844175 TogoVar
COSMIC COSM4989395 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely benign 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-29 criteria provided, single submitter not provided unknown germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Benign 2015-08-10 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline somatic unknown Detail
Benign 2017-11-01 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2020-01-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2017-02-23 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline Detail
Benign 2022-03-23 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
Benign 2022-03-23 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
Benign 2022-03-23 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
Benign 2022-03-23 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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.012 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.360 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.011 Malignant neoplasm of breast In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.080 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.002 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
0.001 breast carcinoma In multivariable analyses, WRN V114I (rs2230009) significantly modified the asso... BeFree 17764108 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND Familial cancer of breast ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions ClinVar Detail
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) AND multiple conditions ClinVar Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... DisGeNET Detail
In multivariable analyses, WRN V114I (rs2230009) significantly modified the association between cumu... 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
rs4986850 dbSNP
Genome
hg19
Position
chr17:41,245,471-41,245,471
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))
rs4986850
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
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121324
Allele Counts in All Race (ExAC)
6893
Heterozygous Counts in All Race (ExAC)
6379
Homozygous Counts in All Race (ExAC)
257
Allele Frequency in All Race (ExAC)
0.05681480993043421
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