NM_001614.5(ACTG1):c.346dup (p.Arg116fs) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 2023
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:: RCV003803753.2

Allele description [Variation Report for NM_001614.5(ACTG1):c.346dup (p.Arg116fs)]

NM_001614.5(ACTG1):c.346dup (p.Arg116fs)

Gene:

ACTG1:actin gamma 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001614.5(ACTG1):c.346dup (p.Arg116fs)

HGVS:

NC_000017.11:g.81511920dup
NG_011433.1:g.5882dup
NG_015964.2:g.1860dup
NM_001199954.3:c.346dup
NM_001614.5:c.346dupMANE SELECT
NP_001186883.1:p.Arg116fs
NP_001605.1:p.Arg116fs
NC_000017.10:g.79478945_79478946insT
NC_000017.10:g.79478946dup
NR_037688.3:n.418dup

Protein change:

R116fs

Molecular consequence:

NM_001199954.3:c.346dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001614.5:c.346dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_037688.3:n.418dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 20
Synonyms:: Deafness, autosomal dominant 20
Identifiers:: MONDO: MONDO:0011480; MedGen: C1858172; Orphanet: 90635; OMIM: 604717

Name:: Baraitser-winter syndrome 2
Identifiers:: MONDO: MONDO:0013812; MedGen: C3281235; Orphanet: 2995; OMIM: 614583

Recent activity

Clear Turn Off Turn On

Human DNA sequence from clone p373c6 on chromosome 6p21.31-21.33, complete seque...
Human DNA sequence from clone p373c6 on chromosome 6p21.31-21.33, complete sequence
gi|3046744|emb|AL022393.1|

Nucleotide

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
SCV004593821	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004593821

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 3, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004593821.1

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

Description

This sequence change creates a premature translational stop signal (p.Arg116Lysfs*10) in the ACTG1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACTG1 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACTG1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine