NM_001101.5(ACTB):c.143del (p.Gly48fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 7, 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:: RCV000627603.2

Allele description [Variation Report for NM_001101.5(ACTB):c.143del (p.Gly48fs)]

NM_001101.5(ACTB):c.143del (p.Gly48fs)

Gene:

ACTB:actin beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_001101.5(ACTB):c.143del (p.Gly48fs)

HGVS:

NC_000007.14:g.5529383del
NG_007992.1:g.6221del
NM_001101.5:c.143delMANE SELECT
NP_001092.1:p.Gly48fs
LRG_132t1:c.143del
LRG_132:g.6221del
NC_000007.13:g.5569014del
NM_001101.3:c.143del
NM_001101.3:c.143delG

Protein change:

G48fs

Links:

dbSNP: rs1554329584

NCBI 1000 Genomes Browser:

rs1554329584

Molecular consequence:

NM_001101.5:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000748603	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 7, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000748603

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 7, 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, SCV000748603.5

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)

#	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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