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NM_182641.4(BPTF):c.2245dup (p.Arg749fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 2018
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:
RCV001008250.1

Allele description [Variation Report for NM_182641.4(BPTF):c.2245dup (p.Arg749fs)]

NM_182641.4(BPTF):c.2245dup (p.Arg749fs)

Gene:
BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_182641.4(BPTF):c.2245dup (p.Arg749fs)
HGVS:
  • NC_000017.11:g.67893559dup
  • NG_052828.1:g.73043dup
  • NM_004459.7:c.2623dup
  • NM_182641.4:c.2245dupMANE SELECT
  • NP_004450.3:p.Arg875fs
  • NP_872579.2:p.Arg749fs
  • NC_000017.10:g.65889675dup
  • NM_004459.6:c.2623dupA
Protein change:
R749fs
Links:
dbSNP: rs1598468564
NCBI 1000 Genomes Browser:
rs1598468564
Molecular consequence:
  • NM_004459.7:c.2623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_182641.4:c.2245dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001168016GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 19, 2018) 		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, SCV001168016.1

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

Description

The c.2623dupA variant in the BPTF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2623dupA variant causes a frameshift starting with codon Arginine 875, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Arg875LysfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2623dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2623dupA as a pathogenic variant.

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

Last Updated: Apr 23, 2022