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NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Jul 6, 2017
Accession:
VCV000411310.2
Variation ID:
411310
Description:
2bp indel
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NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys)

Allele ID
399770
Variant type
Indel
Variant length
2 bp
Cytogenetic location
12q13.13
Genomic location
12: 51915368-51915369 (GRCh38) GRCh38 UCSC
12: 52309152-52309153 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000020.2:c.916_917delGCinsAA missense
LRG_543t1:c.916_917delinsAA LRG_543p1:p.Ala306Lys
NC_000012.11:g.52309152_52309153delinsAA
... more HGVS
Protein change
A306K
Other names
-
Canonical SPDI
NC_000012.12:51915367:GC:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16614160
dbSNP: rs1060503244
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 18, 2016 RCV000474312.1
Uncertain significance 1 criteria provided, single submitter Jul 6, 2017 RCV000519342.1
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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
Uncertain significance
(Nov 18, 2016)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV000552411.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 2 nucleotides and inserts 2 nucleotides in exon 7 of the ACVRL1 mRNA (c.916_917delGCinsAA), but otherwise preserves the integrity of the … (more)
Uncertain significance
(Jul 06, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618878.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the ACVRL1 gene. The c.916_917delGCinsAA variant has not been published as pathogenic or been reported as … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1060503244...

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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 08, 2021