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NM_206933.4(USH2A):c.12067-1G>C

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Oct 19, 2017
Accession:
VCV000048389.2
Variation ID:
48389
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.12067-1G>C

Allele ID
57551
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215680377 (GRCh38) GRCh38 UCSC
1: 215853719 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215853719C>G
NC_000001.11:g.215680377C>G
NM_206933.4:c.12067-1G>C MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:215680376:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA262072
dbSNP: rs397517977
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 5, 2010 RCV000041711.2
Likely pathogenic 1 criteria provided, single submitter Oct 19, 2017 RCV000670110.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3452 4058

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 19, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000794926.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Oct 05, 2010)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065407.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The 12067-1G>C variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. The 12067-1G>C variant is predicted to … (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 rs397517977...

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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 Jul 07, 2021