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NM_182641.4(BPTF):c.2482dup (p.Glu828fs) AND Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 2, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000515231.2

Allele description [Variation Report for NM_182641.4(BPTF):c.2482dup (p.Glu828fs)]

NM_182641.4(BPTF):c.2482dup (p.Glu828fs)

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.2482dup (p.Glu828fs)
HGVS:
  • NC_000017.11:g.67894104dup
  • NG_052828.1:g.73588dup
  • NM_004459.7:c.2860dup
  • NM_182641.4:c.2482dupMANE SELECT
  • NP_004450.3:p.Glu954fs
  • NP_872579.2:p.Glu828fs
  • NC_000017.10:g.65890220dup
  • NM_004459.6:c.2860dup
Protein change:
E828fs
Links:
OMIM: 601819.0001; dbSNP: rs1555639411
NCBI 1000 Genomes Browser:
rs1555639411
Molecular consequence:
  • NM_004459.7:c.2860dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_182641.4:c.2482dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Identifiers:
MONDO: MONDO:0060596; MedGen: C4540327; OMIM: 617755

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000611132OMIM
no assertion criteria provided
Pathogenic
(Apr 2, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, et al.

Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.

PubMed [citation]
PMID:
28942966
PMCID:
PMC5630163

Details of each submission

From OMIM, SCV000611132.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 2-year-old boy (patient 1) with neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL; 617755), Stankiewicz et al. (2017) identified a de novo heterozygous 1-bp duplication (c.2860dup, NM_004459.6) in exon 9 of the BPTF gene, resulting in a frameshift and premature termination (Glu954GlyfsTer5). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing; functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Oct 8, 2024