NM_000552.4(VWF):c.1614C>T (p.Pro538=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Feb 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000994816.2

Allele description [Variation Report for NM_000552.4(VWF):c.1614C>T (p.Pro538=)]

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

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.4(VWF):c.1614C>T (p.Pro538=)
HGVS:
  • NC_000012.12:g.6057964G>A
  • NG_009072.1:g.71707C>T
  • NM_000552.4:c.1614C>T
  • NP_000543.2:p.Pro538=
  • NC_000012.11:g.6167130G>A
Links:
dbSNP: rs138268387
NCBI 1000 Genomes Browser:
rs138268387
Molecular consequence:
  • NM_000552.4:c.1614C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001148599CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Apr 1, 2017)
germlineclinical testing

Citation Link,

SCV001469934Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Feb 25, 2020)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

Nicchia E, Giordano P, Greco C, De Rocco D, Savoia A.

Int J Lab Hematol. 2016 Aug;38(4):412-8. doi: 10.1111/ijlh.12516. Epub 2016 Jun 20.

PubMed [citation]
PMID:
27320760

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001148599.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469934.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

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