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NM_006172.4(NPPA):c.277_278del (p.Asp93fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV000537322.5
Variation ID:
537322
Description:
2bp microsatellite
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NM_006172.4(NPPA):c.277_278del (p.Asp93fs)

Allele ID
515067
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
1p36.22
Genomic location
1: 11847285-11847286 (GRCh38) GRCh38 UCSC
1: 11907342-11907343 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_006172.3:c.277_278del
NC_000001.10:g.11907343CT[2]
NC_000001.11:g.11847286CT[2]
... more HGVS
Protein change
D93fs
Other names
-
Canonical SPDI
NC_000001.11:11847284:TCTCTCT:TCTCT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA597041
dbSNP: rs774165756
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 Aug 14, 2020 RCV000646144.6
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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
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 6
Allele origin: germline
Invitae
Accession: SCV000767901.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Asp93Trpfs*13) in the NPPA gene. It is expected to result in an absent or disrupted protein … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs774165756...

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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 Oct 08, 2021