NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 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:: RCV005416710.1

Allele description [Variation Report for NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)]

NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)

HGVS:

NC_000007.14:g.100647493TTC[2]
NM_016188.5:c.703AAG[2]MANE SELECT
NP_057272.1:p.Lys237del
NC_000007.13:g.100245116TTC[2]
NM_016188.4:c.709_711del
NR_134539.2:n.797AAG[2]

Protein change:

K237del

Links:

dbSNP: rs755552228

Molecular consequence:

NM_016188.5:c.703AAG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_134539.2:n.797AAG[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV006083900	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 9, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV006083900

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 9, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV006083900.1

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

Description

Observed in an individual with a neurodevelopmental disorder in published literature, but additional clinical information was not provided (PMID: 37500730); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid(s) in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 37500730)

#	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		not provided	not provided	not provided	not provided

Last Updated: Jun 14, 2025

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