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

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 19, 2022
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:: RCV000679343.11

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:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329105	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 19, 2022)	germline	clinical testing	Citation Link,
SCV000806124	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 12, 2017)	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

SCV000329105

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 19, 2022)

germline

clinical testing

Citation Link,

SCV000806124

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 12, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 GeneDx, SCV000329105.8

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

Description

Frameshift variant predicted to result in protein extension as the last 3 amino acids are replaced by 18 different amino acids; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

From PreventionGenetics, part of Exact Sciences, SCV000806124.1

#	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

Last Updated: May 7, 2024

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