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NM_001077182.2(FSCN2):c.150C>G (p.Pro50=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 28, 2017
Accession:
VCV000167104.1
Variation ID:
167104
Description:
single nucleotide variant
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NM_001077182.2(FSCN2):c.150C>G (p.Pro50=)

Allele ID
177729
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.3
Genomic location
17: 81528681 (GRCh38) GRCh38 UCSC
17: 79495707 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.81528681C>G
NC_000017.10:g.79495707C>G
NM_001077182.2:c.150C>G NP_001070650.1:p.Pro50= synonymous
NG_015964.1:g.5291C>G
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (G)

Allele frequency
1000 Genomes Project 0.00419
The Genome Aggregation Database (gnomAD) 0.00430
The Genome Aggregation Database (gnomAD), exomes 0.00437
Trans-Omics for Precision Medicine (TOPMed) 0.00244
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00269
Links
dbSNP: rs184519759
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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 Apr 7, 2014 RCV000153277.3
Likely benign 1 criteria provided, single submitter Jun 28, 2017 RCV000625405.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FSCN2 - - GRCh38
GRCh37
35 61

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 30
Allele origin: germline
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745255.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Apr 07, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000202753.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FSCN2 - - - -

Record last updated Mar 29, 2019