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NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 9, 2020)
Last evaluated:
Sep 14, 2018
Accession:
VCV000916634.1
Variation ID:
916634
Description:
single nucleotide variant
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NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)

Allele ID
904994
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.3
Genomic location
13: 38691882 (GRCh38) GRCh38 UCSC
13: 39266019 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.39266019A>G
NC_000013.11:g.38691882A>G
NG_008125.2:g.9847A>G
NM_207361.6:c.4538A>G MANE Select NP_997244.4:p.Asp1513Gly missense
Protein change
D1513G
Other names
-
Canonical SPDI
NC_000013.11:38691881:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1869886793
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 Sep 14, 2018 RCV001172402.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FREM2 - - GRCh38
GRCh37
556 596

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 14, 2018)
criteria provided, single submitter
Method: clinical testing
Fraser syndrome 2
(Autosomal recessive inheritance)
Allele origin: inherited
Service de Biochimie M├ędicale et Biologie Mol├ęculaire, CHU Clermont-Ferrand
Accession: SCV001335460.1
Submitted: (Mar 09, 2020)
Comment:
PM2+PM3+PP3+PP4
Evidence details
Comment:
This variant in homozygous state or compound heterozygous state induced Fraser syndrome phenotype

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 rs1869886793...

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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