NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 21, 2022
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:: RCV003223711.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)]

NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)

Gene:

ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)

HGVS:

NC_000012.12:g.51915299_51915305delinsTT
NG_009549.1:g.12882_12888delinsTT
NM_000020.3:c.847_853delinsTTMANE SELECT
NM_001077401.2:c.847_853delinsTT
NP_000011.2:p.Gly283fs
NP_001070869.1:p.Gly283fs
LRG_543t1:c.847_853delinsTT
LRG_543:g.12882_12888delinsTT
NC_000012.11:g.52309083_52309089delinsTT
NC_000012.11:g.52309083_52309089delinsTT
NM_000020.2:c.847_853delinsTT

Protein change:

G283fs

Links:

dbSNP: rs1940804402

NCBI 1000 Genomes Browser:

rs1940804402

Molecular consequence:

NM_000020.3:c.847_853delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077401.2:c.847_853delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV003919296	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Oct 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919296

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Oct 21, 2022)

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, SCV003919296.1

#	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 at significant frequency in large population cohorts (gnomAD); 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: Sep 29, 2024

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