NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 12, 2017
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:: RCV000780945.2

Allele description [Variation Report for NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)]

NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs)

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.2324_2325del (p.Leu775fs)

HGVS:

NC_000002.12:g.214728685_214728686del
NG_012047.3:g.86026_86027del
NM_000465.4:c.2324_2325delMANE SELECT
NM_001282543.2:c.2267_2268del
NM_001282545.2:c.971_972del
NM_001282548.2:c.914_915del
NM_001282549.2:c.785_786del
NP_000456.2:p.Leu775fs
NP_001269472.1:p.Leu756fs
NP_001269474.1:p.Leu324fs
NP_001269477.1:p.Leu305fs
NP_001269478.1:p.Leu262fs
LRG_297t1:c.2324_2325del
LRG_297:g.86026_86027del
LRG_297p1:p.Leu775fs
NC_000002.11:g.215593409_215593410del
NG_012047.2:g.86019_86020del
NM_000465.2:c.2324_2325del
NM_000465.2:c.2324_2325delTT
NM_000465.3:c.2324_2325del
NM_000465.3:c.2324_2325delTT
NR_104212.2:n.2289_2290del
NR_104215.2:n.2232_2233del
NR_104216.2:n.1488_1489del
p.L775Rfs*19

Protein change:

L262fs

Links:

dbSNP: rs587782046

NCBI 1000 Genomes Browser:

rs587782046

Molecular consequence:

NM_000465.4:c.2324_2325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282543.2:c.2267_2268del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282545.2:c.971_972del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282548.2:c.914_915del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282549.2:c.785_786del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_104212.2:n.2289_2290del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.2232_2233del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1488_1489del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000918618	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Oct 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000918618

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Oct 12, 2017)

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918618.1

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

Description

Variant summary: The BARD1 c.2324_2325delTT (p.Leu775ArgfsX3+) variant results in a frameshift and a 15 amino acid extension of the protein. One in silico tool predicts a benign outcome for this variant. This variant is absent in 245804 control chromosomes in gnomAD. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a VUS until additional evidence becomes available.

#	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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