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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2020
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:
RCV001257319.3

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]
Observations:
1

Condition(s)

Name:
Sensorineural hearing loss disorder
Synonyms:
Sensorineural hearing loss; Sensorineural hearing impairment
Identifiers:
MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407
Name:
Heart, malformation of
Identifiers:
MONDO: MONDO:0009327; MeSH: D006330; MedGen: CN130023; OMIM: 140500; OMIM: 234750
Name:
Abnormality of the inner ear
Identifiers:
MedGen: C4021809; Human Phenotype Ontology: HP:0000359
Name:
Intellectual disability, moderate
Synonyms:
Moderae intellectual disability
Identifiers:
MedGen: C0026351; Human Phenotype Ontology: HP:0002342
Name:
Postnatal growth retardation
Identifiers:
MedGen: C1859778; Human Phenotype Ontology: HP:0008897
Name:
Primary microcephaly
Synonyms:
Congenital microcephaly
Identifiers:
MedGen: C2677180; Human Phenotype Ontology: HP:0011451

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190579Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 25, 2020) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedno21not providednot providednot providedclinical testing
not providedinheritedyes2not providednot providednot providednot providedclinical testing

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 Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron, SCV001190579.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
21not providednot providedclinical testing PubMed (1)
31not providednot providedclinical testing PubMed (1)

Description

Parents of the two affected brothers are consanguinous and carrier testing showed that both are heterozygous for the variant.

Consanguineous parents, both heterozygous for the variant

Consanguineous parents, both heterozygous for the variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritednonot providednot providednot provided2not provided1not provided
2inheritedyesnot providednot providednot provided1not providednot providednot provided
3inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024