NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 20, 2022
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:: RCV000564760.3

Allele description [Variation Report for NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)]

NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter)

HGVS:

NC_000002.12:g.214780663dup
NG_012047.3:g.34049dup
NM_000465.4:c.1211dupMANE SELECT
NM_001282543.2:c.1154dup
NM_001282545.2:c.215+16398dup
NM_001282548.2:c.159-28108dup
NM_001282549.2:c.364+11634dup
NP_000456.2:p.Tyr404Ter
NP_001269472.1:p.Tyr385Ter
LRG_297t1:c.1211dup
LRG_297:g.34049dup
LRG_297p1:p.Tyr404Ter
NC_000002.11:g.215645386_215645387insT
NC_000002.11:g.215645387dup
NG_012047.2:g.34042dup
NM_000465.2:c.1211dupA
NR_104212.2:n.1176dup
NR_104215.2:n.1119dup

Protein change:

Y385*

Links:

dbSNP: rs1553622178

NCBI 1000 Genomes Browser:

rs1553622178

Molecular consequence:

NM_001282545.2:c.215+16398dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.159-28108dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11634dup - intron variant - [Sequence Ontology: SO:0001627]
NR_104212.2:n.1176dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1119dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000465.4:c.1211dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001282543.2:c.1154dup - nonsense - [Sequence Ontology: SO:0001587]

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

Gm25974 AND (alive[prop]) (0)
Gene
Mesorhizobium loti R88b chromosome, complete genome
Mesorhizobium loti R88b chromosome, complete genome
gi|1845805654|gb|CP033367.1|

Nucleotide
ribulose-bisphosphate carboxylase large subunit, partial (chloroplast) [Salix ho...
ribulose-bisphosphate carboxylase large subunit, partial (chloroplast) [Salix hookeriana]
gi|667487569|gb|AIG58084.1|

Protein
Homo sapiens thiosulfate sulfurtransferase (TST), transcript variant 2, mRNA
Homo sapiens thiosulfate sulfurtransferase (TST), transcript variant 2, mRNA
gi|395394070|ref|NM_001270483.1|

Nucleotide

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
SCV000668281	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 20, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000668281

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 20, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group., Cicek MS, Cunningham JM, Fridley BL, et al.

J Natl Cancer Inst. 2015 Aug 27;107(11). doi:pii: djv214. 10.1093/jnci/djv214. Print 2015 Nov.

PubMed [citation]

PMID:: 26315354
PMCID:: PMC4643629

Details of each submission

From Ambry Genetics, SCV000668281.5

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

Description

The c.1211dupA pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from a duplication of A at nucleotide position 1211, causing a translational frameshift with a predicted alternate stop codon (p.Y404*). Another variant, BARD1 c.1212C>G, which also causes this same predicted alternate stop codon (p.Y404*), has been reported in an ovarian cancer family (Ramus SJ et al. J. Natl. Cancer Inst. 2015 Nov;107). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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

ClinVar

Relating variation to medicine