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NM_000465.4(BARD1):c.738A>G (p.Pro246=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Sep 17, 2020
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:
RCV000123822.12

Allele description [Variation Report for NM_000465.4(BARD1):c.738A>G (p.Pro246=)]

NM_000465.4(BARD1):c.738A>G (p.Pro246=)

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.738A>G (p.Pro246=)
Other names:
p.P246P:CCA>CCG
HGVS:
  • NC_000002.12:g.214781136T>C
  • NG_012047.3:g.33576A>G
  • NM_000465.4:c.738A>GMANE SELECT
  • NM_001282543.2:c.681A>G
  • NM_001282545.2:c.215+15925A>G
  • NM_001282548.2:c.158+28276A>G
  • NM_001282549.2:c.364+11161A>G
  • NP_000456.2:p.Pro246=
  • NP_001269472.1:p.Pro227=
  • LRG_297t1:c.738A>G
  • LRG_297:g.33576A>G
  • LRG_297p1:p.Pro246=
  • NC_000002.11:g.215645860T>C
  • NG_012047.2:g.33569A>G
  • NM_000465.2:c.738A>G
  • NM_000465.3:c.738A>G
  • NR_104212.2:n.703A>G
  • NR_104215.2:n.646A>G
  • p.P246P
Links:
dbSNP: rs587780859
NCBI 1000 Genomes Browser:
rs587780859
Molecular consequence:
  • NM_001282545.2:c.215+15925A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28276A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11161A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_104212.2:n.703A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.646A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000465.4:c.738A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282543.2:c.681A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000214005Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 19, 2014) 		germlineclinical testing

Citation Link,

SCV000682812Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 11, 2016) 		germlineclinical testing

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

SCV002529649Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Sep 17, 2020) 		germlinecuration

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV000214005.7

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000682812.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Sema4, Sema4, SCV002529649.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024