chr17:41215908:C> Detail (hg19) (BRCA1)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr17:41,215,908-41,215,908
hg38	chr17:43,063,891-43,063,891

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007300.3:c.5198delG	NP_009231.2:p.Val1734Ter
	NM_007294.3:c.5135delG	NP_009225.1:p.Val1713Ter
	NM_007297.3:c.4994delG	NP_009228.2:p.Val1666Ter
	NM_007299.3:c.1823delG	NP_009230.2:p.Val609Ter
	NM_007298.3:c.1823delG	NP_009229.2:p.Val609Ter
Ensemble	ENST00000352993.7:c.1709delG	ENST00000352993.7:p.Val571Ter
	ENST00000493919.6:c.1685delG	ENST00000493919.6:p.Val563Ter
	ENST00000591534.5:c.608delG	ENST00000591534.5:p.Val204Ter
	ENST00000497488.2:c.4247delG	ENST00000497488.2:p.Val1417Ter
	ENST00000471181.7:c.5198delG	ENST00000471181.7:p.Val1734Ter
	ENST00000461574.2:c.5132delG	ENST00000461574.2:p.Val1712Ter
	ENST00000357654.9:c.5135delG	ENST00000357654.9:p.Val1713Ter
	ENST00000478531.6:c.1823delG	ENST00000478531.6:p.Val609Ter
	ENST00000484087.6:c.1697delG	ENST00000484087.6:p.Val567Ter
	ENST00000494123.6:c.5135delG	ENST00000494123.6:p.Val1713Ter
	ENST00000493795.5:c.4994delG	ENST00000493795.5:p.Val1666Ter
	ENST00000468300.5:c.1823delG	ENST00000468300.5:p.Val609Ter
	ENST00000644555.2:c.1685delG	ENST00000644555.2:p.Val563Ter
	ENST00000473961.6:c.5009delG	ENST00000473961.6:p.Val1671Ter
	ENST00000477152.6:c.5057delG	ENST00000477152.6:p.Val1687Ter
	ENST00000489037.2:c.5057delG	ENST00000489037.2:p.Val1687Ter
	ENST00000476777.6:c.5129delG	ENST00000476777.6:p.Val1711Ter
	ENST00000644379.2:c.5201delG	ENST00000644379.2:p.Val1735Ter
	ENST00000713676.1:c.5135delG	ENST00000713676.1:p.Val1713Ter
	ENST00000618469.2:c.5135delG	ENST00000618469.2:p.Val1713Ter
	ENST00000586385.5:c.65delG	ENST00000586385.5:p.Val23Ter
	ENST00000491747.6:c.1823delG	ENST00000491747.6:p.Val609Ter
	ENST00000470026.6:c.5135delG	ENST00000470026.6:p.Val1713Ter
	ENST00000634433.2:c.5012delG	ENST00000634433.2:p.Val1672Ter
	ENST00000591849.5:c.-98-13701delG

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	Pathogenic
Review star
Show details

Links

BRCA1

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
Pathogenic	2024-01-27	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Pathogenic	2023-02-16	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-09-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance		no assertion criteria provided		unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR	Detail
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) AND Breast-ovarian cancer, familial, suscepti...	ClinVar	Detail
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer) AND Malignant tumor of breast	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs80357997 dbSNP
Genome: hg19
Position: chr17:41,215,908-41,215,908
Variant Type: snv
Reference Allele: C
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8604
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): 120452
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): 8.302062232258493E-6

Genome browser