NM_000465.4(BARD1):c.122T>G (p.Leu41Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 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:: RCV002259223.2

Allele description [Variation Report for NM_000465.4(BARD1):c.122T>G (p.Leu41Arg)]

NM_000465.4(BARD1):c.122T>G (p.Leu41Arg)

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.122T>G (p.Leu41Arg)

HGVS:

NC_000002.12:g.214809448A>C
NG_012047.3:g.5264T>G
NM_000465.4:c.122T>GMANE SELECT
NM_001282543.2:c.122T>G
NM_001282545.2:c.122T>G
NM_001282548.2:c.122T>G
NM_001282549.2:c.122T>G
NP_000456.2:p.Leu41Arg
NP_001269472.1:p.Leu41Arg
NP_001269474.1:p.Leu41Arg
NP_001269477.1:p.Leu41Arg
NP_001269478.1:p.Leu41Arg
LRG_297t1:c.122T>G
LRG_297:g.5264T>G
LRG_297p1:p.Leu41Arg
NC_000002.11:g.215674172A>C
NM_000465.2:c.122T>G
NR_104212.2:n.236T>G
NR_104215.2:n.236T>G
NR_104216.2:n.236T>G

Protein change:

L41R

Links:

dbSNP: rs2106170996

NCBI 1000 Genomes Browser:

rs2106170996

Molecular consequence:

NM_000465.4:c.122T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.122T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.122T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.122T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.122T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.236T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.236T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.236T>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002526995	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Nov 17, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002526995

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Nov 17, 2021)

germline

curation

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	curation

Details of each submission

From Sema4, Sema4, SCV002526995.1

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

#	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

ClinVar

Relating variation to medicine