chr17:41203080:C>T Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,203,080-41,203,080
hg38 chr17:43,051,063-43,051,063 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007294.3:c.5332G>A NP_009225.1:p.Asp1778Asn
NM_007299.3:c.2020G>A NP_009230.2:p.Gly674Arg
NM_007300.3:c.5395G>A NP_009231.2:p.Asp1799Asn
Summary

MGeND

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

Frequency

[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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2023/06/29 other not provided MGS000087
(TMGS000173) 		Shigeaki Sunada
Shigeaki Sunada		 Juntendo University
Juntendo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-07-18 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Pathogenic Likely pathogenic 2023-08-16 criteria provided, multiple submitters, no conflicts Breast-ovarian cancer, familial, susceptibility to, 1 germline not applicable Detail
Likely pathogenic 2023-04-24 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-03-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Malignant neoplasm of breast The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in... BeFree 22684231 Detail
0.080 breast carcinoma The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in... BeFree 22684231 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) AND not provided ClinVar Detail
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr... DisGeNET Detail
The rare BRCA1 UV c.5332G>A/p.Asp1778Asn was found here for the first time in co-occurrence in tr... 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
rs80357112 dbSNP
Genome
hg19
Position
chr17:41,203,080-41,203,080
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser