NM_014739.3(BCLAF1):c.248G>T (p.Gly83Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 2022
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:: RCV004220979.1

Allele description [Variation Report for NM_014739.3(BCLAF1):c.248G>T (p.Gly83Val)]

NM_014739.3(BCLAF1):c.248G>T (p.Gly83Val)

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.248G>T (p.Gly83Val)

HGVS:

NC_000006.12:g.136278633C>A
NM_001077440.3:c.242G>T
NM_001077441.3:c.248G>T
NM_001301038.3:c.242G>T
NM_001363659.3:c.248G>T
NM_001386693.1:c.248G>T
NM_001386694.1:c.248G>T
NM_001386695.1:c.248G>T
NM_001386696.1:c.242G>T
NM_001386697.1:c.248G>T
NM_001386698.1:c.242G>T
NM_001386699.1:c.248G>T
NM_001386700.1:c.248G>T
NM_001386701.1:c.248G>T
NM_001386702.1:c.248G>T
NM_001386703.1:c.242G>T
NM_001386704.1:c.248G>T
NM_014739.3:c.248G>TMANE SELECT
NP_001070908.1:p.Gly81Val
NP_001070909.1:p.Gly83Val
NP_001287967.1:p.Gly81Val
NP_001350588.1:p.Gly83Val
NP_001373622.1:p.Gly83Val
NP_001373623.1:p.Gly83Val
NP_001373624.1:p.Gly83Val
NP_001373625.1:p.Gly81Val
NP_001373626.1:p.Gly83Val
NP_001373627.1:p.Gly81Val
NP_001373628.1:p.Gly83Val
NP_001373629.1:p.Gly83Val
NP_001373630.1:p.Gly83Val
NP_001373631.1:p.Gly83Val
NP_001373632.1:p.Gly81Val
NP_001373633.1:p.Gly83Val
NP_055554.1:p.Gly83Val
NC_000006.11:g.136599771C>A
NM_014739.2:c.248G>T
NR_170164.1:n.496G>T
NR_170165.1:n.496G>T
NR_170166.1:n.490G>T
NR_170167.1:n.496G>T
NR_170168.1:n.496G>T
NR_170169.1:n.496G>T
NR_170170.1:n.496G>T

Protein change:

G81V

Molecular consequence:

NM_001077440.3:c.242G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001077441.3:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001301038.3:c.242G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363659.3:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386693.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386694.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386695.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386696.1:c.242G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386697.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386698.1:c.242G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386699.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386700.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386701.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386702.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386703.1:c.242G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001386704.1:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014739.3:c.248G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_170164.1:n.496G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170165.1:n.496G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170166.1:n.490G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170167.1:n.496G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170168.1:n.496G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170169.1:n.496G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_170170.1:n.496G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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LOC127460252 [Homo sapiens]
LOC127460252 [Homo sapiens]
Gene ID:127460252

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003723614	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 26, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003723614

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 26, 2022)

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 Ambry Genetics, SCV003723614.2

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

Description

The c.248G>T (p.G83V) alteration is located in exon 4 (coding exon 2) of the BCLAF1 gene. This alteration results from a G to T substitution at nucleotide position 248, causing the glycine (G) at amino acid position 83 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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