NM_001100.4(ACTA1):c.323_329delinsTCGAGGT (p.Thr108_Ala110delinsIleGluVal) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 16, 2020
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:: RCV000482001.2

Allele description [Variation Report for NM_001100.4(ACTA1):c.323_329delinsTCGAGGT (p.Thr108_Ala110delinsIleGluVal)]

NM_001100.4(ACTA1):c.323_329delinsTCGAGGT (p.Thr108_Ala110delinsIleGluVal)

Gene:

ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

1q42.13

Genomic location:

Preferred name:

NM_001100.4(ACTA1):c.323_329delinsTCGAGGT (p.Thr108_Ala110delinsIleGluVal)

HGVS:

NC_000001.11:g.229432681_229432687delinsACCTCGA
NG_006672.1:g.6410_6416delinsTCGAGGT
NM_001100.4:c.323_329delinsTCGAGGTMANE SELECT
NP_001091.1:p.Thr108_Ala110delinsIleGluVal
NP_001091.1:p.Thr108_Ala110delinsIleGluVal
LRG_429t1:c.323_329delinsTCGAGGT
LRG_429:g.6410_6416delinsTCGAGGT
LRG_429p1:p.Thr108_Ala110delinsIleGluVal
NC_000001.10:g.229568428_229568434delinsACCTCGA
NM_001100.3:c.323_329delCCGAGGCinsTCGAGGT
NM_001100.3:c.323_329delinsTCGAGGT

Links:

dbSNP: rs1064795075

NCBI 1000 Genomes Browser:

rs1064795075

Molecular consequence:

NM_001100.4:c.323_329delinsTCGAGGT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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delta-sarcoglycan isoform X1 [Accipiter gentilis]
delta-sarcoglycan isoform X1 [Accipiter gentilis]
gi|2280361752|ref|XP_049685611.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000570523	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Sep 16, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000570523

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Sep 16, 2020)

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, SCV000570523.3

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Apr 23, 2022

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