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NM_172056.2(KCNH2):c.699G>A (p.Ala233=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
Oct 26, 2018
Accession:
VCV000456937.2
Variation ID:
456937
Description:
single nucleotide variant
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NM_172056.2(KCNH2):c.699G>A (p.Ala233=)

Allele ID
456864
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q36.1
Genomic location
7: 150958276 (GRCh38) GRCh38 UCSC
7: 150655364 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.150655364C>T
NC_000007.14:g.150958276C>T
NM_000238.3:c.699G>A NP_000229.1:p.Ala233= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA458872234
dbSNP: rs1242612823
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 26, 2018 RCV000557580.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KCNH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1316 1379

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000627496.2
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

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

Record last updated Jan 08, 2020