NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign (4 submissions)
Last evaluated:: Oct 20, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000128959.9

Allele description [Variation Report for NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)]

NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)

Other names:

NP_000456.2:p.Leu359_Pro365del

HGVS:

NC_000002.11:g.215645507_215645527delGAAGAACATTCAGGCAATGGT
NC_000002.12:g.214780783_214780803del
NG_012047.3:g.33913_33933del
NM_000465.4:c.1075_1095delMANE SELECT
NM_001282543.2:c.1018_1038del
NM_001282545.2:c.215+16262_215+16282del
NM_001282548.2:c.159-28244_159-28224del
NM_001282549.2:c.364+11498_364+11518del
NP_000456.2:p.Leu359_Pro365del
NP_001269472.1:p.Leu340_Pro346del
LRG_297t1:c.1075_1095del
LRG_297:g.33913_33933del
LRG_297p1:p.Leu359_Pro365del
NC_000002.11:g.215645503_215645523del
NC_000002.11:g.215645503_215645523delTGGTGAAGAACATTCAGGCAA
NC_000002.11:g.215645507_215645527del
NC_000002.11:g.215645507_215645527del
NC_000002.11:g.215645507_215645527delGAAGAACATTCAGGCAATGGT
NG_012047.2:g.33906_33926del
NM_000465.2:c.1075_1095delTTGCCTGAATGTTCTTCACCA
NM_000465.3:c.1075_1095delTTGCCTGAATGTTCTTCACCA
NM_000465.4:c.1075_1095del
NR_104212.2:n.1040_1060del
NR_104215.2:n.983_1003del
p.L359_P365del
p.S364*

Links:

dbSNP: rs28997575

NCBI 1000 Genomes Browser:

rs28997575

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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JUICE Juiciness score [Sus scrofa]
JUICE Juiciness score [Sus scrofa]
Gene ID:100324007

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172828	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))	Benign (Sep 17, 2012)	germline	clinical testing	Citation Link,
SCV000172840	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))	Benign (Nov 18, 2014)	germline	clinical testing	Citation Link,
SCV000682666	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 14, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002526981	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Oct 20, 2020)	germline	curation	Citation Link

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Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Ambry Genetics, SCV000172828.1

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

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

From Ambry Genetics, SCV000172840.2

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

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

From Color Diagnostics, LLC DBA Color Health, SCV000682666.2

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

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

From Sema4, Sema4, SCV002526981.1

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

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

Last Updated: Oct 8, 2024

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