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NM_000020.2(ACVRL1):c.760_762del (p.Asp254del)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 10, 2018)
Last evaluated:
May 23, 2017
Accession:
VCV000008250.2
Variation ID:
8250
Description:
3bp deletion
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NM_000020.2(ACVRL1):c.760_762del (p.Asp254del)

Allele ID
23289
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
12q13.13
Genomic location
12: 51914571-51914573 (GRCh38) GRCh38 UCSC
12: 52308355-52308357 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_009549.1:g.12156_12158del
NM_000020.2:c.760_762delGAC NP_000011.2:p.Asp254del
LRG_543t1:c.760_762del LRG_543p1:p.Asp254del
... more HGVS
Protein change
D254del
Other names
-
Canonical SPDI
NC_000012.12:51914570:ACGAC:AC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA119399
OMIM: 601284.0008
dbSNP: rs387906393
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 23, 2017 RCV000755791.2
Pathogenic 1 no assertion criteria provided Aug 2, 2001 RCV000008735.3
Pathogenic 1 no assertion criteria provided Aug 2, 2001 RCV000008736.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACVRL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
572 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000883363.1
Submitted: (Oct 10, 2018)
Evidence details
Pathogenic
(Aug 02, 2001)
no assertion criteria provided
Method: literature only
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Allele origin: germline
OMIM
Accession: SCV000028944.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 02, 2001)
no assertion criteria provided
Method: literature only
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Allele origin: germline
OMIM
Accession: SCV000028945.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. Trembath RC The New England journal of medicine 2001 PMID: 11484689

Text-mined citations for rs387906393...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 16, 2021