chr17:41256167:A>G Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,256,167-41,256,167
hg38 chr17:43,104,150-43,104,150 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007298.3:c.413T>C NP_009229.2:p.Leu138Pro
NM_007299.3:c.413T>C NP_009230.2:p.Leu138Pro
NM_007300.3:c.413T>C NP_009231.2:p.Leu138Pro
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 Conflicting classifications of pathogenicity
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-03-28 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2021-11-09 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance no assertion criteria provided not provided unknown Detail
Likely benign 2023-03-10 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Malignant neoplasm of breast No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2... BeFree 18523885 Detail
0.080 breast carcinoma No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2... BeFree 18523885 Detail
0.019 breast carcinoma No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2... BeFree 18523885 Detail
0.360 Malignant neoplasm of breast No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2... BeFree 18523885 Detail
0.080 breast carcinoma No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2... BeFree 18523885 Detail
0.090 Malignant neoplasm of breast No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2... BeFree 18523885 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND not provided ClinVar Detail
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) AND Breast-ovarian cancer, familial, susceptibility to, 1 ClinVar Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ... DisGeNET Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ... DisGeNET Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ... DisGeNET Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ... DisGeNET Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ... DisGeNET Detail
No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: ... 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
rs200449040 dbSNP
Genome
hg19
Position
chr17:41,256,167-41,256,167
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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)
121404
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236960890909689E-6
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