NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 3, 2023
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:: RCV000115632.17

Allele description [Variation Report for NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)]

NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)

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.2291T>C (p.Ile764Thr)

Other names:

p.I764T:ATA>ACA

HGVS:

NC_000002.12:g.214728719A>G
NG_012047.3:g.85993T>C
NM_000465.4:c.2291T>CMANE SELECT
NM_001282543.2:c.2234T>C
NM_001282545.2:c.938T>C
NM_001282548.2:c.881T>C
NM_001282549.2:c.752T>C
NP_000456.2:p.Ile764Thr
NP_001269472.1:p.Ile745Thr
NP_001269474.1:p.Ile313Thr
NP_001269477.1:p.Ile294Thr
NP_001269478.1:p.Ile251Thr
LRG_297t1:c.2291T>C
LRG_297:g.85993T>C
LRG_297p1:p.Ile764Thr
NC_000002.11:g.215593443A>G
NG_012047.2:g.85986T>C
NM_000465.2:c.2291T>C
NM_000465.3:c.2291T>C
NR_104212.2:n.2256T>C
NR_104215.2:n.2199T>C
NR_104216.2:n.1455T>C

Protein change:

I251T

Links:

dbSNP: rs587780030

NCBI 1000 Genomes Browser:

rs587780030

Molecular consequence:

NM_000465.4:c.2291T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.2234T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.881T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.2256T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.2199T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1455T>C - 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
SCV000149541	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 3, 2023)	germline	clinical testing	Citation Link,
SCV002046139	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Jun 4, 2021)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 33471991, 31036035, 25452441, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000149541

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 3, 2023)

germline

clinical testing

Citation Link,

SCV002046139

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Jun 4, 2021)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]

PMID:: 33471991
PMCID:: PMC7611105

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, et al.

Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.

PubMed [citation]

PMID:: 31036035
PMCID:: PMC6489184

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000149541.14

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer, as well as unaffected controls (PMID: 25452441, 33471991, 31036035); This variant is associated with the following publications: (PMID: 25452441, 31036035, 36530327, 17550235, 33471991)

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046139.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Oct 20, 2024

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