NM_016188.5(ACTL6B):c.1048G>A (p.Gly350Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 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:: RCV002893657.2

Allele description [Variation Report for NM_016188.5(ACTL6B):c.1048G>A (p.Gly350Arg)]

NM_016188.5(ACTL6B):c.1048G>A (p.Gly350Arg)

Gene:

ACTL6B:actin like 6B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_016188.5(ACTL6B):c.1048G>A (p.Gly350Arg)

HGVS:

NC_000007.14:g.100646616C>T
NM_016188.5:c.1048G>AMANE SELECT
NP_057272.1:p.Gly350Arg
NC_000007.13:g.100244239C>T
NM_016188.4:c.1048G>A
NR_134539.2:n.1142G>A

Protein change:

G350R

Molecular consequence:

NM_016188.5:c.1048G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_134539.2:n.1142G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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Cibar2 CBY1 interacting BAR domain containing 2 [Mus musculus]
Cibar2 CBY1 interacting BAR domain containing 2 [Mus musculus]
Gene ID:436062

Gene
436062[uid] AND (alive[prop]) (1)
Gene
splicing factor-like protein 1 [Cucurbita pepo subsp. pepo]
splicing factor-like protein 1 [Cucurbita pepo subsp. pepo]
gi|1333154289|ref|XP_023551928.1|

Protein
Eurois astricta voucher BIOUG<CAN>:AVBC 758-10 cytochrome oxidase subunit 1 (COI...
Eurois astricta voucher BIOUG<CAN>:AVBC 758-10 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|331155244|gnl|uoguelph|LALPA756- I-5P|gb|JF853180.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003647522	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003647522

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 27, 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, SCV003647522.2

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

Description

The c.1048G>A (p.G350R) alteration is located in exon 12 (coding exon 12) of the ACTL6B gene. This alteration results from a G to A substitution at nucleotide position 1048, causing the glycine (G) at amino acid position 350 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: May 1, 2024

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