chr17:41234451:G>C Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,234,451-41,234,451
hg38 chr17:43,082,434-43,082,434 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007297.3:c.4186C>G NP_009228.2:p.Arg1396Gly
NM_007299.3:c.1018C>G NP_009230.2:p.Arg340Gly
NM_007300.3:c.4327C>G NP_009231.2:p.Arg1443Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-06-18 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 1 germline unknown Detail
Benign 2024-01-20 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Likely benign 2022-03-14 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2020-12-28 criteria provided, single submitter not specified germline Detail
Likely benign 2023-06-28 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Likely benign 2019-03-15 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
0.082 ovarian carcinoma Molecular and genealogical characterization of the R1443X BRCA1 mutation in high... BeFree 15883839 Detail
0.280 Malignant neoplasm of ovary Molecular and genealogical characterization of the R1443X BRCA1 mutation in high... BeFree 15883839 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) AND not specified ClinVar Detail
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) AND BRCA1-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadia... DisGeNET Detail
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadia... 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
rs41293455 dbSNP
Genome
hg19
Position
chr17:41,234,451-41,234,451
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
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)
121390
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)
2.4713732597413298E-5
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