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NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 11, 2019
Accession:
VCV000840195.1
Variation ID:
840195
Description:
9bp deletion
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NM_006172.4(NPPA):c.346_354del (p.Arg116_Leu118del)

Allele ID
822595
Variant type
Deletion
Variant length
9 bp
Cytogenetic location
1p36.22
Genomic location
1: 11847209-11847217 (GRCh38) GRCh38 UCSC
1: 11907266-11907274 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.11907270_11907278del
NC_000001.11:g.11847213_11847221del
NG_012926.1:g.5567_5575del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:11847208:CAGCGCCCTCAGC:CAGC
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 Jun 11, 2019 RCV001042132.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOC114827827 - - - GRCh38 - 90
NPPA - - GRCh38
GRCh37
1 124
NPPA-AS1 - - - GRCh38 - 91

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 11, 2019)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 6
Allele origin: germline
Invitae
Accession: SCV001205796.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This variant, c.346_354del, results in the deletion of 3 amino acid(s) of the NPPA protein (p.Arg116_Leu118del), but otherwise preserves the integrity of the reading frame. … (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