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NM_000465.4(BARD1):c.692C>T (p.Ser231Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 2016
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:
RCV000342857.2

Allele description [Variation Report for NM_000465.4(BARD1):c.692C>T (p.Ser231Phe)]

NM_000465.4(BARD1):c.692C>T (p.Ser231Phe)

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.692C>T (p.Ser231Phe)
HGVS:
  • NC_000002.12:g.214781182G>A
  • NG_012047.3:g.33530C>T
  • NM_000465.4:c.692C>TMANE SELECT
  • NM_001282543.2:c.635C>T
  • NM_001282545.2:c.215+15879C>T
  • NM_001282548.2:c.158+28230C>T
  • NM_001282549.2:c.364+11115C>T
  • NP_000456.2:p.Ser231Phe
  • NP_001269472.1:p.Ser212Phe
  • LRG_297t1:c.692C>T
  • LRG_297:g.33530C>T
  • LRG_297p1:p.Ser231Phe
  • NC_000002.11:g.215645906G>A
  • NG_012047.2:g.33523C>T
  • NM_000465.2:c.692C>T
  • NM_000465.3:c.692C>T
  • NR_104212.2:n.657C>T
  • NR_104215.2:n.600C>T
Protein change:
S212F
Links:
dbSNP: rs758140052
NCBI 1000 Genomes Browser:
rs758140052
Molecular consequence:
  • NM_001282545.2:c.215+15879C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28230C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11115C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.657C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.600C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000329099GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 12, 2016) 		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, SCV000329099.6

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

Description

This variant is denoted BARD1 c.692C>T at the cDNA level, p.Ser231Phe (S231F) at the protein level, and results in the change of a Serine to a Phenylalanine (TCC>TTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 Ser231Phe 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 Serine and Phenylalanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BARD1 Ser231Phe occurs at a position that is not conserved and is not located in a known functional domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BARD1 Ser231Phe 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: Sep 29, 2024