NM_000465.4(BARD1):c.1309_1314del (p.Ile437_Lys438del) AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 8, 2022
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:: RCV003607864.2

Allele description [Variation Report for NM_000465.4(BARD1):c.1309_1314del (p.Ile437_Lys438del)]

NM_000465.4(BARD1):c.1309_1314del (p.Ile437_Lys438del)

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.1309_1314del (p.Ile437_Lys438del)

HGVS:

NC_000002.12:g.214780560_214780565del
NG_012047.3:g.34147_34152del
NM_000465.4:c.1309_1314delMANE SELECT
NM_001282543.2:c.1252_1257del
NM_001282545.2:c.215+16496_215+16501del
NM_001282548.2:c.159-28010_159-28005del
NM_001282549.2:c.364+11732_364+11737del
NP_000456.2:p.Ile437_Lys438del
NP_001269472.1:p.Ile418_Lys419del
LRG_297t1:c.1309_1314del
LRG_297:g.34147_34152del
LRG_297p1:p.Ile437_Lys438del
NC_000002.11:g.215645284_215645289del
NR_104212.2:n.1274_1279del
NR_104215.2:n.1217_1222del

Molecular consequence:

NM_000465.4:c.1309_1314del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282543.2:c.1252_1257del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001282545.2:c.215+16496_215+16501del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28010_159-28005del - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11732_364+11737del - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.1274_1279del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1217_1222del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004406994	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 8, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004406994

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 8, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004406994.1

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

Description

This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant, c.1309_1314del, results in the deletion of 2 amino acid(s) of the BARD1 protein (p.Ile437_Lys438del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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