chr13:32379894:>A Detail (hg38) (BRCA2)

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

Genome

Assembly	Position
hg19	chr13:32,954,031-32,954,031
hg38	chr13:32,379,894-32,379,894

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.9097_9098insA	NP_000050.2:p.Thr3033AsnfsTer11
Ensemble	ENST00000380152.8:c.9097_9098insA	ENST00000380152.8:p.Thr3033AsnfsTer11
	ENST00000530893.7:c.8728_8729insA	ENST00000530893.7:p.Thr2910AsnfsTer11
	ENST00000544455.6:c.9097_9098insA	ENST00000544455.6:p.Thr3033AsnfsTer11
	ENST00000700202.2:c.9046_9047insA	ENST00000700202.2:p.Thr3016AsnfsTer11
	ENST00000713678.1:c.9097_9098insA	ENST00000713678.1:p.Thr3033AsnfsTer11
	ENST00000713680.1:c.8941_8942insA	ENST00000713680.1:p.Thr2981AsnfsTer11

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

BRCA2

Type	Database	ID	Link
Gene	MIM	600185	OMIM
	HGNC	1101	HGNC
	Ensembl	ENSG00000139618	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv48217730	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-04-22	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 2	germline unknown	Detail
Pathogenic	2024-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-02-28	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-05	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline unknown	Detail
Pathogenic	2015-11-20	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Pathogenic	2023-10-20	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2023-04-28	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2018-12-01	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic	2021-08-08	no assertion criteria provided	breast carcinoma	germline	Detail
Pathogenic	2020-10-22	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast	germline	Detail
Pathogenic	2020-10-22	criteria provided, single submitter	Breast-ovarian cancer, familial, susceptibility to, 2,Familial cancer of breast	germline	Detail
Pathogenic	2021-07-01	no assertion criteria provided	Gastric cancer	germline	Detail
Pathogenic	2023-03-31	criteria provided, single submitter		germline	Detail
Pathogenic	2023-12-04	no assertion criteria provided	Malignant lymphoma, large B-cell, diffuse	somatic	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast-ovarian cancer, familial, susceptibility to, 2	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND not provided	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Familial cancer of breast	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Neoplasm of ovary	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Malignant tumor of breast	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Breast carcinoma	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND multiple conditions	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Gastric cancer	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND See cases	ClinVar	Detail
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) AND Malignant lymphoma, large B-cell, diffuse	ClinVar	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: rs397507419 dbSNP
Genome: hg38
Position: chr13:32,379,894-32,379,894
Variant Type: snv
Reference Allele: -
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 7960
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): 114390
Allele Counts in All Race (ExAC): 11
Heterozygous Counts in All Race (ExAC): 11
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.61622519451001E-5

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