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NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 18, 2020
Accession:
VCV001040195.1
Variation ID:
1040195
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)

Allele ID
1028862
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127819938 (GRCh38) GRCh38 UCSC
9: 130582217 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130582217A>C
NC_000009.12:g.127819938A>C
NG_009551.1:g.39831T>G
... more HGVS
Protein change
C412G, C230G
Other names
-
Canonical SPDI
NC_000009.12:127819937:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 18, 2020 RCV001343795.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
590 883
LOC102723566 - - - GRCh38 - 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001537803.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces cysteine with glycine at codon 412 of the ENG protein (p.Cys412Gly). The cysteine residue is moderately 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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Title Author Journal Year Link
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function. Mallet C Human molecular genetics 2015 PMID: 25312062
Hereditary hemorrhagic telangiectasia in Japanese patients. Komiyama M Journal of human genetics 2014 PMID: 24196379
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia. Ali BR PloS one 2011 PMID: 22022569
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Lesca G Human mutation 2004 PMID: 15024723

Record last updated Oct 08, 2021