NM_182641.4(BPTF):c.6562_6563del (p.Val2188fs) AND Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 20, 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:: RCV001802369.7

Allele description [Variation Report for NM_182641.4(BPTF):c.6562_6563del (p.Val2188fs)]

NM_182641.4(BPTF):c.6562_6563del (p.Val2188fs)

Gene:

BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_182641.4(BPTF):c.6562_6563del (p.Val2188fs)

HGVS:

NC_000017.11:g.67944234_67944235del
NG_052828.1:g.123718_123719del
NM_004459.7:c.6940_6941del
NM_182641.4:c.6562_6563delMANE SELECT
NP_004450.3:p.Val2314fs
NP_872579.2:p.Val2188fs
NC_000017.10:g.65940350_65940351del
NC_000017.10:g.65940350_65940351delGT

Protein change:

V2188fs

Links:

dbSNP: rs2147907396

NCBI 1000 Genomes Browser:

rs2147907396

Molecular consequence:

NM_004459.7:c.6940_6941del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_182641.4:c.6562_6563del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047845	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Pathogenic (Aug 20, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047845

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)

Pathogenic
(Aug 20, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002047845.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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