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NM_000465.4(BARD1):c.2001+2T>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 16, 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:
RCV003477000.1

Allele description [Variation Report for NM_000465.4(BARD1):c.2001+2T>C]

NM_000465.4(BARD1):c.2001+2T>C

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.2001+2T>C
HGVS:
  • NC_000002.12:g.214730409A>G
  • NG_012047.3:g.84303T>C
  • NM_000465.3:c.2001+2T>C
  • NM_000465.4:c.2001+2T>CMANE SELECT
  • NM_001282543.2:c.1944+2T>C
  • NM_001282545.2:c.648+2T>C
  • NM_001282548.2:c.591+2T>C
  • NM_001282549.2:c.462+2T>C
  • LRG_297t1:c.2001+2T>C
  • LRG_297:g.84303T>C
  • NC_000002.11:g.215595133A>G
  • NM_000465.2:c.2001+2T>C
Molecular consequence:
  • NM_000465.4:c.2001+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282543.2:c.1944+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282545.2:c.648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282548.2:c.591+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282549.2:c.462+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004222388Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Dec 16, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004222388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant disrupts a canonical splice-donor site in the second to last exon, but may not result in nonsense mediated decay. To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000004 (1/251366 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: May 1, 2024