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NM_000118.3(ENG):c.722G>A (p.Ser241Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Oct 14, 2016
Accession:
VCV000407116.1
Variation ID:
407116
Description:
single nucleotide variant
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NM_000118.3(ENG):c.722G>A (p.Ser241Asn)

Allele ID
397071
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825325 (GRCh38) GRCh38 UCSC
9: 130587604 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130587604C>T
NC_000009.12:g.127825325C>T
NM_000118.3:c.722G>A NP_000109.1:p.Ser241Asn missense
... more HGVS
Protein change
S241N, S59N
Other names
-
Canonical SPDI
NC_000009.12:127825324:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA16612707
dbSNP: rs1060501411
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 Oct 14, 2016 RCV000472253.1
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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
591 884

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000546108.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces serine with asparagine at codon 241 of the ENG protein (p.Ser241Asn). The serine residue is weakly 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 rs1060501411...

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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 Apr 12, 2021