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NM_000410.4(HFE):c.1006+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 6, 2021)
Last evaluated:
May 6, 2021
Accession:
VCV001065637.1
Variation ID:
1065637
Description:
single nucleotide variant
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NM_000410.4(HFE):c.1006+1G>A

Allele ID
1053984
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p22.2
Genomic location
6: 26093233 (GRCh38) GRCh38 UCSC
6: 26093461 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_748:g.10953G>A
NC_000006.11:g.26093461G>A
NC_000006.12:g.26093233G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:26093232:G:A
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
Likely pathogenic 1 criteria provided, single submitter May 6, 2021 RCV001376186.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HFE - - GRCh38
GRCh37
91 141

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 06, 2021)
criteria provided, single submitter
Method: clinical testing
Hemochromatosis type 1
Allele origin: germline
School of Computer Science,University of Waterloo
Accession: SCV001573238.1
Submitted: (May 06, 2021)
Evidence details
Comment:
Evidence categories PVS1 and PM2 in ACMG guidelines. This is a splice donor variant in gene HFE that may disrupt mRNA splicing and result in … (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