NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His) AND BCLAF1-related disorder

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 16, 2020
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:: RCV003972664.2

Allele description [Variation Report for NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His)]

NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His)

Gene:

BCLAF1:BCL2 associated transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.3

Genomic location:

Preferred name:

NM_014739.3(BCLAF1):c.2096G>A (p.Arg699His)

HGVS:

NC_000006.12:g.136269560C>T
NM_001077440.3:c.2090G>A
NM_001077441.3:c.1577G>A
NM_001301038.3:c.2090G>A
NM_001363659.3:c.2096G>A
NM_001386693.1:c.2093G>A
NM_001386694.1:c.2093G>A
NM_001386695.1:c.1574G>A
NM_001386696.1:c.1571G>A
NM_001386697.1:c.1577G>A
NM_001386698.1:c.1571G>A
NM_001386699.1:c.1017-1221G>A
NM_001386700.1:c.2096G>A
NM_001386701.1:c.2096G>A
NM_001386702.1:c.1577G>A
NM_001386703.1:c.1571G>A
NM_001386704.1:c.1577G>A
NM_014739.3:c.2096G>AMANE SELECT
NP_001070908.1:p.Arg697His
NP_001070909.1:p.Arg526His
NP_001287967.1:p.Arg697His
NP_001350588.1:p.Arg699His
NP_001373622.1:p.Arg698His
NP_001373623.1:p.Arg698His
NP_001373624.1:p.Arg525His
NP_001373625.1:p.Arg524His
NP_001373626.1:p.Arg526His
NP_001373627.1:p.Arg524His
NP_001373629.1:p.Arg699His
NP_001373630.1:p.Arg699His
NP_001373631.1:p.Arg526His
NP_001373632.1:p.Arg524His
NP_001373633.1:p.Arg526His
NP_055554.1:p.Arg699His
NC_000006.11:g.136590698C>T
NM_014739.2:c.2096G>A
NR_170164.1:n.2571G>A
NR_170165.1:n.2405G>A
NR_170166.1:n.2338G>A
NR_170167.1:n.2571G>A
NR_170168.1:n.1825G>A
NR_170169.1:n.2344G>A
NR_170170.1:n.2344G>A

Protein change:

R524H

Links:

dbSNP: rs62431287

NCBI 1000 Genomes Browser:

rs62431287

Molecular consequence:

NM_001386699.1:c.1017-1221G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001077440.3:c.2090G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001077441.3:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001301038.3:c.2090G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363659.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386693.1:c.2093G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386694.1:c.2093G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386695.1:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386696.1:c.1571G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386697.1:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386698.1:c.1571G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386700.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386701.1:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386702.1:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386703.1:c.1571G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001386704.1:c.1577G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014739.3:c.2096G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_170164.1:n.2571G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170165.1:n.2405G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170166.1:n.2338G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170167.1:n.2571G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170168.1:n.1825G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170169.1:n.2344G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170170.1:n.2344G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: BCLAF1-related disorder
Synonyms:: BCLAF1-related condition
Identifiers:

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SRP537809 (16)
SRA
Macronycteris cryptovalorona voucher FMNH 175970 acyl-CoA oxidase 2 (ACOX2) gene...
Macronycteris cryptovalorona voucher FMNH 175970 acyl-CoA oxidase 2 (ACOX2) gene, intron 3
gi|1840209156|gb|MT149703.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004800692	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Benign (Apr 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004800692

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Benign
(Apr 16, 2020)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004800692.2

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

Description

This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 13, 2024

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