NM_000465.4(BARD1):c.850G>A (p.Glu284Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 19, 2024
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:: RCV002447286.4

Allele description [Variation Report for NM_000465.4(BARD1):c.850G>A (p.Glu284Lys)]

NM_000465.4(BARD1):c.850G>A (p.Glu284Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.850G>A (p.Glu284Lys)

HGVS:

NC_000002.12:g.214781024C>T
NG_012047.3:g.33688G>A
NM_000465.4:c.850G>AMANE SELECT
NM_001282543.2:c.793G>A
NM_001282545.2:c.215+16037G>A
NM_001282548.2:c.158+28388G>A
NM_001282549.2:c.364+11273G>A
NP_000456.2:p.Glu284Lys
NP_001269472.1:p.Glu265Lys
LRG_297t1:c.850G>A
LRG_297:g.33688G>A
LRG_297p1:p.Glu284Lys
NC_000002.11:g.215645748C>T
NG_012047.2:g.33681G>A
NM_000465.2:c.850G>A
NR_104212.2:n.815G>A
NR_104215.2:n.758G>A

Protein change:

E265K

Links:

dbSNP: rs1694987566

NCBI 1000 Genomes Browser:

rs1694987566

Molecular consequence:

NM_001282545.2:c.215+16037G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28388G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11273G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.793G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.815G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.758G>A - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002676715	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 19, 2022)	germline	clinical testing	Citation Link,
SCV005045465	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 19, 2024)	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

SCV002676715

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 19, 2022)

germline

clinical testing

Citation Link,

SCV005045465

Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 19, 2024)

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

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, SCV002676715.3

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

Description

The p.E284K variant (also known as c.850G>A), located in coding exon 4 of the BARD1 gene, results from a G to A substitution at nucleotide position 850. The glutamic acid at codon 284 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. 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

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV005045465.1

#	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: Sep 29, 2024

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