NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2024
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:: RCV004601296.1

Allele description [Variation Report for NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg)]

NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg)

Gene:

BEGAIN:brain enriched guanylate kinase associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

Preferred name:

NM_001385089.1(BEGAIN):c.1162G>A (p.Gly388Arg)

HGVS:

NC_000014.9:g.100538646C>T
NM_001159531.2:c.1105G>A
NM_001385082.1:c.1105G>A
NM_001385083.1:c.1105G>A
NM_001385084.1:c.1105G>A
NM_001385085.1:c.1252G>A
NM_001385086.1:c.1234G>A
NM_001385087.1:c.1231G>A
NM_001385088.1:c.1195G>A
NM_001385089.1:c.1162G>AMANE SELECT
NM_001385090.1:c.1144G>A
NM_001385091.1:c.1141G>A
NM_001385092.1:c.1126G>A
NM_001385093.1:c.1078G>A
NM_001385094.1:c.1060G>A
NM_001385095.1:c.1042G>A
NM_001385096.1:c.1021G>A
NM_001385097.1:c.1021G>A
NM_001385098.1:c.1021G>A
NM_001385099.1:c.1021G>A
NM_001385100.1:c.1021G>A
NM_001385101.1:c.913G>A
NM_001385102.1:c.913G>A
NM_001385103.1:c.913G>A
NM_001385104.1:c.913G>A
NM_020836.4:c.1105G>A
NP_001153003.1:p.Gly369Arg
NP_001153003.1:p.Gly369Arg
NP_001372011.1:p.Gly369Arg
NP_001372012.1:p.Gly369Arg
NP_001372013.1:p.Gly369Arg
NP_001372014.1:p.Gly418Arg
NP_001372015.1:p.Gly412Arg
NP_001372016.1:p.Gly411Arg
NP_001372017.1:p.Gly399Arg
NP_001372018.1:p.Gly388Arg
NP_001372019.1:p.Gly382Arg
NP_001372020.1:p.Gly381Arg
NP_001372021.1:p.Gly376Arg
NP_001372022.1:p.Gly360Arg
NP_001372023.1:p.Gly354Arg
NP_001372024.1:p.Gly348Arg
NP_001372025.1:p.Gly341Arg
NP_001372026.1:p.Gly341Arg
NP_001372027.1:p.Gly341Arg
NP_001372028.1:p.Gly341Arg
NP_001372029.1:p.Gly341Arg
NP_001372030.1:p.Gly305Arg
NP_001372031.1:p.Gly305Arg
NP_001372032.1:p.Gly305Arg
NP_001372033.1:p.Gly305Arg
NP_065887.1:p.Gly369Arg
NC_000014.8:g.101004983C>T
NM_001159531.1:c.1105G>A
NR_169571.1:n.1340G>A

Protein change:

G305R

Links:

dbSNP: rs370537162

NCBI 1000 Genomes Browser:

rs370537162

Molecular consequence:

NM_001159531.2:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385082.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385083.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385084.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385085.1:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385086.1:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385087.1:c.1231G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385088.1:c.1195G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385089.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385090.1:c.1144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385091.1:c.1141G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385092.1:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385093.1:c.1078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385094.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385095.1:c.1042G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385096.1:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385097.1:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385098.1:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385099.1:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385100.1:c.1021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385101.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385102.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385103.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385104.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020836.4:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_169571.1:n.1340G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Microbe sample from Actinokineospora sp.
Microbe sample from Actinokineospora sp.

biosample
ras-related protein Rap-1A precursor [Homo sapiens]
ras-related protein Rap-1A precursor [Homo sapiens]
gi|4506413|ref|NP_002875.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005098547	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005098547

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 19, 2024)

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, SCV005098547.1

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

Description

The c.1105G>A (p.G369R) alteration is located in exon 6 (coding exon 6) of the BEGAIN gene. This alteration results from a G to A substitution at nucleotide position 1105, causing the glycine (G) at amino acid position 369 to be replaced by an arginine (R). 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: Aug 11, 2024

ClinVar

Relating variation to medicine