NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3]) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000218325.7

Allele description [Variation Report for NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])]

NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.26_40dup (p.4_8NRQPR[3])

HGVS:

NC_000002.12:g.214809543_214809557dup
NG_012047.3:g.5168_5182dup
NM_000465.4:c.26_40dupMANE SELECT
NM_001282543.2:c.26_40dup
NM_001282545.2:c.26_40dup
NM_001282548.2:c.26_40dup
NM_001282549.2:c.26_40dup
NP_000456.2:p.4_8NRQPR[3]
NP_001269472.1:p.4_8NRQPR[3]
NP_001269474.1:p.4_8NRQPR[3]
NP_001269477.1:p.4_8NRQPR[3]
NP_001269478.1:p.4_8NRQPR[3]
LRG_297t1:c.26_40dup
LRG_297:g.5168_5182dup
LRG_297p1:p.4_8NRQPR[3]
NC_000002.11:g.215674253_215674254insTCCTCGGCTGCCGGT
NC_000002.11:g.215674267_215674281dup
NG_012047.2:g.5161_5175dup
NM_000465.2:c.26_40dupACCGGCAGCCGAGGA
NM_000465.3:c.26_40dupACCGGCAGCCGAGGA
NR_104212.2:n.140_154dup
NR_104215.2:n.140_154dup
NR_104216.2:n.140_154dup

Links:

dbSNP: rs587781979

NCBI 1000 Genomes Browser:

rs587781979

Molecular consequence:

NM_000465.4:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282543.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282545.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282548.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001282549.2:c.26_40dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_104212.2:n.140_154dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.140_154dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.140_154dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

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EC2BBA26BA09.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA ...
EC2BBA26BA09.g1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA clone xtbs26A18 5', mRNA sequence
gi|45878480|gnl|dbEST|22198973|gb|C 84.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000273310	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 25, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000273310

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 25, 2023)

germline

clinical testing

Citation Link

Help

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

Details of each submission

From Ambry Genetics, SCV000273310.8

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

Description

The c.26_40dup15 variant (also known as p.N9_R13dup), located in coding exon 1 of the BARD1 gene, results from an in-frame duplication of 15 nucleotides at nucleotide positions 26 to 40. This results in the duplication of 5 extra residues (NRQPR) between codons 9 and 13. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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