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NM_000552.4(VWF):c.1614C>T (p.Pro538=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Feb 25, 2020
Accession:
VCV000806804.7
Variation ID:
806804
Description:
single nucleotide variant
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NM_000552.4(VWF):c.1614C>T (p.Pro538=)

Allele ID
796836
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 6057964 (GRCh38) GRCh38 UCSC
12: 6167130 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.6167130G>A
NC_000012.12:g.6057964G>A
NM_000552.4:c.1614C>T NP_000543.2:p.Pro538= synonymous
NG_009072.1:g.71707C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:6057963:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00053
The Genome Aggregation Database (gnomAD), exomes 0.00040
The Genome Aggregation Database (gnomAD) 0.00019
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Exome Aggregation Consortium (ExAC) 0.00039
1000 Genomes Project 0.00040
Links
dbSNP: rs138268387
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 25, 2020 RCV000994816.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VWF - - GRCh38
GRCh37
971 1025

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469934.1
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148599.6
Submitted: (Jul 04, 2021)
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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Title Author Journal Year Link
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. Nicchia E International journal of laboratory hematology 2016 PMID: 27320760

Text-mined citations for rs138268387...

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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 10, 2021