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NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Dec 30, 2020)
Last evaluated:
Dec 3, 2019
Accession:
VCV000774239.2
Variation ID:
774239
Description:
single nucleotide variant
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NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=)

Allele ID
704795
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15161604 (GRCh38) GRCh38 UCSC
19: 15272415 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.15161604C>T
NC_000019.9:g.15272415C>T
NG_009819.1:g.44378G>A
NM_000435.3:c.6024G>A MANE Select NP_000426.2:p.Pro2008= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:15161603:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD) 0.00010
The Genome Aggregation Database (gnomAD) 0.00007
Exome Aggregation Consortium (ExAC) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
dbSNP: rs766274305
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 21, 2018 RCV000954170.1
Benign 1 criteria provided, single submitter Dec 3, 2019 RCV001288541.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NOTCH3 - - GRCh38
GRCh37
836 855

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 21, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001100784.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Dec 03, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001475720.1
Submitted: (Dec 30, 2020)
Evidence details

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 rs766274305...

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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 Nov 27, 2021