NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG AND Malignant tumor of breast

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001355935.2

Allele description [Variation Report for NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG]

NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.1904-12_1904-10delinsGGG

HGVS:

NC_000002.12:g.214730518_214730520delinsCCC
NG_012047.3:g.84192_84194delinsGGG
NM_000465.4:c.1904-12_1904-10delinsGGGMANE SELECT
NM_001282543.2:c.1847-12_1847-10delinsGGG
NM_001282545.2:c.551-12_551-10delinsGGG
NM_001282548.2:c.494-12_494-10delinsGGG
NM_001282549.2:c.365-12_365-10delinsGGG
LRG_297t1:c.1904-12_1904-10delinsGGG
LRG_297:g.84192_84194delinsGGG
NC_000002.11:g.215595242_215595244delinsCCC

Links:

dbSNP: rs2105990964

NCBI 1000 Genomes Browser:

rs2105990964

Molecular consequence:

NM_000465.4:c.1904-12_1904-10delinsGGG - intron variant - [Sequence Ontology: SO:0001627]
NM_001282543.2:c.1847-12_1847-10delinsGGG - intron variant - [Sequence Ontology: SO:0001627]
NM_001282545.2:c.551-12_551-10delinsGGG - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.494-12_494-10delinsGGG - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.365-12_365-10delinsGGG - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Malignant tumor of breast
Synonyms:: Malignant breast neoplasm; Cancer breast
Identifiers:: MONDO: MONDO:0007254; MedGen: C0006142

Recent activity

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PREDICTED: Homo sapiens interleukin 7 (IL7), transcript variant X4, mRNA
PREDICTED: Homo sapiens interleukin 7 (IL7), transcript variant X4, mRNA
gi|2217371925|ref|XM_047421766.1|

Nucleotide
JGI_XZT68384.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7787745 5'...
JGI_XZT68384.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7787745 5', mRNA sequence
gi|74306583|gnl|dbEST|31382109|gb|C 49.2|

Nucleotide
BJ078954 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ078954 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL066l01 3', mRNA sequence
gi|17523870|gnl|dbEST|10543263|dbj| 954.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001550965	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001550965

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001550965.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The BARD1 c.1904-12_1904-10delinsGGG variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Cosmic, or Zhejiang University databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.1904-12_1904-10delinsGGG variant is located in the 3' splice region but does not affect the invariant -1 and -2 positions. However, positions -3 and -5 to -12 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. In addition, 5 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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