Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001114753.3(ENG):c.806T>A (p.Met269Lys)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 15, 2020
Accession:
VCV001069311.1
Variation ID:
1069311
Description:
single nucleotide variant
Help

NM_001114753.3(ENG):c.806T>A (p.Met269Lys)

Allele ID
1061557
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825241 (GRCh38) GRCh38 UCSC
9: 130587520 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589:g.34528T>A
LRG_589t1:c.806T>A LRG_589p1:p.Met269Lys
NC_000009.11:g.130587520A>T
... more HGVS
Protein change
M269K, M87K
Other names
-
Canonical SPDI
NC_000009.12:127825240:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 15, 2020 RCV001381129.1
Help
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
604 902

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001579382.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (1)
PubMed: 20414677
Comment:
This sequence change replaces methionine with lysine at codon 269 of the ENG protein (p.Met269Lys). The methionine residue is weakly conserved and there is a … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Richards-Yutz J Human genetics 2010 PMID: 20414677

Record last updated Jan 08, 2022