U.S. flag

An official website of the United States government

NM_000465.4(BARD1):c.485C>A (p.Ser162Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 2020
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:
RCV002340327.2

Allele description [Variation Report for NM_000465.4(BARD1):c.485C>A (p.Ser162Ter)]

NM_000465.4(BARD1):c.485C>A (p.Ser162Ter)

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.485C>A (p.Ser162Ter)
HGVS:
  • NC_000002.12:g.214781389G>T
  • NG_012047.3:g.33323C>A
  • NM_000465.4:c.485C>AMANE SELECT
  • NM_001282543.2:c.428C>A
  • NM_001282545.2:c.215+15672C>A
  • NM_001282548.2:c.158+28023C>A
  • NM_001282549.2:c.364+10908C>A
  • NP_000456.2:p.Ser162Ter
  • NP_001269472.1:p.Ser143Ter
  • LRG_297t1:c.485C>A
  • LRG_297:g.33323C>A
  • LRG_297p1:p.Ser162Ter
  • NC_000002.11:g.215646113G>T
  • NM_000465.2:c.485C>A
  • NR_104212.2:n.450C>A
  • NR_104215.2:n.393C>A
Protein change:
S143*
Molecular consequence:
  • NM_001282545.2:c.215+15672C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28023C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+10908C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_104212.2:n.450C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.393C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000465.4:c.485C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282543.2:c.428C>A - 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

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002634890Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Pathogenic
    (Jan 6, 2020)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Ambry Genetics, SCV002634890.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided

    Description

    The p.S162* pathogenic mutation (also known as c.485C>A), located in coding exon 4 of the BARD1 gene, results from a C to A substitution at nucleotide position 485. This changes the amino acid from a serine to a stop codon within coding exon 4. 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.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: May 1, 2024