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NM_005477.3(HCN4):c.1418T>C (p.Met473Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 19, 2020
Accession:
VCV001043438.1
Variation ID:
1043438
Description:
single nucleotide variant
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NM_005477.3(HCN4):c.1418T>C (p.Met473Thr)

Allele ID
1032140
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q24.1
Genomic location
15: 73329745 (GRCh38) GRCh38 UCSC
15: 73622086 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.73329745A>G
NC_000015.9:g.73622086A>G
NG_009063.1:g.44520T>C
NM_005477.3:c.1418T>C MANE Select NP_005468.1:p.Met473Thr missense
Protein change
M473T
Other names
-
Canonical SPDI
NC_000015.10:73329744:A:G
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 Oct 19, 2020 RCV001347542.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HCN4 - - GRCh38
GRCh37
782 816

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome 8
Allele origin: germline
Invitae
Accession: SCV001541808.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 473 of the HCN4 protein (p.Met473Thr). The methionine 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.

Record last updated Oct 08, 2021