NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 8, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000196965.11

Allele description [Variation Report for NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)]

NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)

Other names:

p.Gly136Serfs*28

HGVS:

NC_000012.11:g.52307433_52307436del
NC_000012.12:g.51913651_51913654del
NG_009549.1:g.11234_11237del
NM_000020.3:c.406_409delMANE SELECT
NM_001077401.2:c.406_409del
NP_000011.2:p.Gly136fs
NP_000011.2:p.Gly136fs
NP_001070869.1:p.Gly136fs
LRG_543t1:c.406_409del
LRG_543:g.11234_11237del
LRG_543p1:p.Gly136fs
NC_000012.11:g.52307433_52307436del
NC_000012.11:g.52307435_52307438del
NC_000012.11:g.52307435_52307438delGGTG
NM_000020.2:c.406_409del
NM_000020.2:c.406_409delGGTG
p.G136Sfs*28

Protein change:

G136fs

Links:

dbSNP: rs863223416

NCBI 1000 Genomes Browser:

rs863223416

Molecular consequence:

NM_000020.3:c.406_409del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077401.2:c.406_409del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens FERM domain containing 8 (FRMD8), transcript variant 1, mRNA
Homo sapiens FERM domain containing 8 (FRMD8), transcript variant 1, mRNA
gi|1519315772|ref|NM_031904.5|

Nucleotide
Homo sapiens Jrk helix-turn-helix protein (JRK), transcript variant 1, mRNA
Homo sapiens Jrk helix-turn-helix protein (JRK), transcript variant 1, mRNA
gi|1705442040|ref|NM_003724.4|

Nucleotide
glycoside hydrolase family 2 protein [Blautia pseudococcoides]
glycoside hydrolase family 2 protein [Blautia pseudococcoides]
gi|1957933713|gnl|PRJNA680355|I5Q86 5|gb|QQQ93614.1|

Protein
transcription factor, Fur family [synthetic bacterium JCVI-Syn3.0]
transcription factor, Fur family [synthetic bacterium JCVI-Syn3.0]
gi|1015828636|gb|AMW76581.1||gnl|PR 2950|JCVISYN3_0620

Protein
FS400464 normalized full-length tobacco cDNA library Nicotiana tabacum cDNA clon...
FS400464 normalized full-length tobacco cDNA library Nicotiana tabacum cDNA clone TBK01A01NGRL0077_4_C06 5', mRNA sequence
gi|254604633|gnl|dbEST|66633142|dbj 0464.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000249637	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Mar 8, 2024)	germline	clinical testing	Citation Link,
SCV002103245	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 8, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10694922, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000249637

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Mar 8, 2024)

germline

clinical testing

Citation Link,

SCV002103245

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 8, 2021)

germline

clinical testing

PubMed (2)
[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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA.

Hum Mutat. 1998;12(2):137.

PubMed [citation]

PMID:: 10694922

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000249637.18

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 15879500, 10694922)

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV002103245.1

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

Description

PP4, PM1, PVS1

#	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: Nov 3, 2024

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