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NM_153676.4(USH1C):c.841_848del (p.Ser281fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Jan 9, 2020
Accession:
VCV000424972.9
Variation ID:
424972
Description:
8bp deletion
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NM_153676.4(USH1C):c.841_848del (p.Ser281fs)

Allele ID
413306
Variant type
Deletion
Variant length
8 bp
Cytogenetic location
11p15.1
Genomic location
11: 17523239-17523246 (GRCh38) GRCh38 UCSC
11: 17544786-17544793 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005709.3:c.841_848del
NM_153676.4:c.841_848del MANE Select NP_710142.1:p.Ser281fs frameshift
NR_123738.2:n.950_957del
... more HGVS
Protein change
S281fs
Other names
-
Canonical SPDI
NC_000011.10:17523238:CTGCGGCT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16621616
dbSNP: rs1064797153
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 Nov 1, 2016 RCV000487515.3
Likely pathogenic 1 criteria provided, single submitter Jan 23, 2018 RCV000672216.1
Pathogenic 1 criteria provided, single submitter Jan 9, 2020 RCV001199564.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH1C - - GRCh38
GRCh37
711 734

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Likely pathogenic
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000574873.12
Submitted: (Jul 04, 2021)
Number of individuals with the variant: 1
Likely pathogenic
(Jan 23, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 1C
Deafness, autosomal recessive 18
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000797303.1
Submitted: (Jul 10, 2018)
Pathogenic
(Jan 09, 2020)
criteria provided, single submitter
Method: research
Usher syndrome type 2
Affected status: yes
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV001162710.1
Submitted: (Jan 09, 2020)

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 rs1064797153...

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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 Jan 01, 2022