NM_182641.4(BPTF):c.543C>G (p.Asp181Glu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 1, 2023
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:: RCV003408192.8

Allele description

NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)

Genes:

LOC130061496:ATAC-STARR-seq lymphoblastoid active region 12632 [Gene]
BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)

HGVS:

NC_000017.11:g.67826267C>G
NG_052828.1:g.5751C>G
NM_004459.7:c.543C>G
NM_182641.4:c.543C>GMANE SELECT
NP_004450.3:p.Asp181Glu
NP_872579.2:p.Asp181Glu
NC_000017.10:g.65822383C>G

Protein change:

D181E

Links:

dbSNP: rs758332344

NCBI 1000 Genomes Browser:

rs758332344

Molecular consequence:

NM_004459.7:c.543C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_182641.4:c.543C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004138864	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Oct 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004138864

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Oct 1, 2023)

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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004138864.8

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

Description

BPTF: PM2:Supporting, PP2

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

Last Updated: Aug 4, 2024

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