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NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 8, 2018
Accession:
VCV000659095.1
Variation ID:
659095
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr)

Allele ID
641251
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51915486 (GRCh38) GRCh38 UCSC
12: 52309270 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543t1:c.1034G>A LRG_543p1:p.Cys345Tyr
LRG_543:g.13069G>A
NC_000012.11:g.52309270G>A
... more HGVS
Protein change
C345Y
Other names
-
Canonical SPDI
NC_000012.12:51915485:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1592224431
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 8, 2018 RCV000816040.1
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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 08, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 2
Allele origin: germline
Invitae
Accession: SCV000956528.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces cysteine with tyrosine at codon 345 of the ACVRL1 protein (p.Cys345Tyr). The cysteine residue is highly conserved and there is a … (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 rs1592224431...

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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