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NM_000465.3(BARD1):c.709C>G (p.Gln237Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 5, 2017
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:
RCV000212120.2

Allele description

NM_000465.3(BARD1):c.709C>G (p.Gln237Glu)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.3(BARD1):c.709C>G (p.Gln237Glu)
Other names:
p.Q237E:CAA>GAA
HGVS:
  • NC_000002.12:g.214781165G>C
  • NG_012047.2:g.33540C>G
  • NM_000465.3:c.709C>G
  • NM_001282545.1:c.215+15896C>G
  • NP_000456.2:p.Gln237Glu
  • NC_000002.11:g.215645889G>C
  • NM_000465.2:c.709C>G
  • NR_104212.1:n.702C>G
  • p.Q237E
Protein change:
Q237E
Links:
dbSNP: rs587780035
NCBI 1000 Genomes Browser:
rs587780035
Allele Frequency:
0.00010(C)
Molecular consequence:
  • NM_001282545.1:c.215+15896C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.3:c.709C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.1:n.702C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149550GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 5, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149550.13

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

Description

This variant is denoted BARD1 c.709C>G at the cDNA level, p.Gln237Glu (Q237E) at the protein level, and results in the change of a Glutamine to a Glutamic Acid (CAA>GAA). This variant has been reported in at least one individual with a Lynch syndrome-associated cancer and/or polyps (Yurgelun 2015). BARD1 Gln237Glu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamine and Glutamic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. BARD1 Gln237Glu occurs at a position that is not conserved and is not located in a known functional domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BARD1 Gln237Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: May 26, 2018