NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2015
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:: RCV000220078.4

Allele description [Variation Report for NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile)]

NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile)

HGVS:

NC_000017.11:g.81511613G>A
NG_011433.1:g.6189C>T
NM_001199954.3:c.377C>T
NM_001614.3:c.377C>T
NM_001614.5:c.377C>TMANE SELECT
NP_001186883.1:p.Thr126Ile
NP_001605.1:p.Thr126Ile
NC_000017.10:g.79478639G>A
NM_001199954.1:c.377C>T
NR_037688.3:n.449C>T

Protein change:

T126I

Links:

dbSNP: rs876657740

NCBI 1000 Genomes Browser:

rs876657740

Molecular consequence:

NM_001199954.3:c.377C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001614.5:c.377C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_037688.3:n.449C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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LOC101209136 [Cucumis sativus]
LOC101209136 [Cucumis sativus]
Gene ID:101209136

Gene
IDH3G [Ovis aries]
IDH3G [Ovis aries]
Gene ID:101110910

Gene
NDAI0F01420 [Naumovozyma dairenensis CBS 421]
NDAI0F01420 [Naumovozyma dairenensis CBS 421]
Gene ID:11499200

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271491	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 18, 2015)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 22366783, 16773128, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000271491

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 18, 2015)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, et al.

Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.

PubMed [citation]

PMID:: 22366783
PMCID:: PMC3677859

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L.

Eur J Hum Genet. 2006 Oct;14(10):1097-105. Epub 2006 Jun 14.

PubMed [citation]

PMID:: 16773128

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271491.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (3)

Description

The p.Thr126Ile variant in ACTG1 has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis suggest that the variant may impact the protein, tho ugh this information is not predictive enough to determine pathogenicity. In sum mary, the clinical significance of the p.Thr126Ile variant is uncertain.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: May 1, 2024

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