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NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 23, 2018
Accession:
VCV000659228.1
Variation ID:
659228
Description:
7bp duplication
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NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)

Allele ID
632139
Variant type
Duplication
Variant length
7 bp
Cytogenetic location
4q35.2
Genomic location
4: 186284230-186284231 (GRCh38) GRCh38 UCSC
4: 187205384-187205385 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_583:g.23268_23274dup
NM_000128.3:c.1275_1281dupGATATTA frameshift
NC_000004.11:g.187205385_187205391dup
... more HGVS
Protein change
T428fs
Other names
-
Canonical SPDI
NC_000004.12:186284230:GATATTA:GATATTAGATATTA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1580098946
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 23, 2018 RCV000816197.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F11 - - GRCh38
GRCh37
268 510

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000956694.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Thr428Aspfs*15) in the F11 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1580098946...

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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 24, 2021