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NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2021
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:
RCV002557927.3

Allele description [Variation Report for NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)]

NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)

Gene:
BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.33
Genomic location:
Preferred name:
NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)
HGVS:
  • NC_000014.9:g.105241305C>G
  • NG_029489.1:g.79273G>C
  • NM_001242786.2:c.309G>C
  • NM_001242787.2:c.309G>C
  • NM_001242788.2:c.573G>C
  • NM_001242789.2:c.-21+7844G>C
  • NM_001519.3:c.654G>C
  • NM_001519.4:c.654G>CMANE SELECT
  • NM_145685.3:c.42G>C
  • NP_001229715.1:p.Trp103Cys
  • NP_001229716.1:p.Trp103Cys
  • NP_001229717.1:p.Trp191Cys
  • NP_001510.2:p.Trp218Cys
  • NP_663718.1:p.Trp14Cys
  • NC_000014.8:g.105707642C>G
Protein change:
W103C
Links:
dbSNP: rs1343140353
NCBI 1000 Genomes Browser:
rs1343140353
Molecular consequence:
  • NM_001242789.2:c.-21+7844G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001242786.2:c.309G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242787.2:c.309G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242788.2:c.573G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001519.4:c.654G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145685.3:c.42G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein abundance [Variation Ontology: 0052]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003554468Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 22, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003554468.2

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

Description

The c.654G>C (p.W218C) alteration is located in exon 6 (coding exon 6) of the BRF1 gene. This alteration results from a G to C substitution at nucleotide position 654, causing the tryptophan (W) at amino acid position 218 to be replaced by a cysteine (C). The p.W218C alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 16, 2024