NM_000465.4(BARD1):c.1891C>A (p.Leu631Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 10, 2021
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:: RCV002408031.2

Allele description [Variation Report for NM_000465.4(BARD1):c.1891C>A (p.Leu631Ile)]

NM_000465.4(BARD1):c.1891C>A (p.Leu631Ile)

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.1891C>A (p.Leu631Ile)

HGVS:

NC_000002.12:g.214745079G>T
NG_012047.3:g.69633C>A
NM_000465.4:c.1891C>AMANE SELECT
NM_001282543.2:c.1834C>A
NM_001282545.2:c.538C>A
NM_001282548.2:c.481C>A
NM_001282549.2:c.365-14571C>A
NP_000456.2:p.Leu631Ile
NP_001269472.1:p.Leu612Ile
NP_001269474.1:p.Leu180Ile
NP_001269477.1:p.Leu161Ile
LRG_297t1:c.1891C>A
LRG_297:g.69633C>A
LRG_297p1:p.Leu631Ile
NC_000002.11:g.215609803G>T
NM_000465.2:c.1891C>A
NR_104212.2:n.1856C>A
NR_104215.2:n.1799C>A
NR_104216.2:n.1055C>A

Protein change:

L161I

Molecular consequence:

NM_001282549.2:c.365-14571C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.1891C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.1834C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.538C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.481C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.1856C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1799C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1055C>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
SCV002719426	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 10, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002719426

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 10, 2021)

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, SCV002719426.2

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

Description

The p.L631I variant (also known as c.1891C>A), located in coding exon 9 of the BARD1 gene, results from a C to A substitution at nucleotide position 1891. The leucine at codon 631 is replaced by isoleucine, an amino acid with highly 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

Last Updated: May 1, 2024

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