NM_015058.2(VWA8):c.3676-7T>C AND Nonsyndromic cleft lip palate

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 27, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000755131.1

Allele description [Variation Report for NM_015058.2(VWA8):c.3676-7T>C]

NM_015058.2(VWA8):c.3676-7T>C

Gene:

VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

Preferred name:

NM_015058.2(VWA8):c.3676-7T>C

HGVS:

NC_000013.11:g.41691945A>G
NM_015058.2:c.3676-7T>CMANE SELECT
NC_000013.10:g.42266081A>G

Links:

dbSNP: rs1566417012

NCBI 1000 Genomes Browser:

rs1566417012

Molecular consequence:

NM_015058.2:c.3676-7T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Nonsyndromic cleft lip palate
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882953	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic (Mar 27, 2016)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882953

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic
(Mar 27, 2016)

inherited

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	2	not provided	not provided	not provided	not provided	research

Citations

PubMed

Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

Aylward A, Cai Y, Lee A, Blue E, Rabinowitz D, Haddad J Jr; University of Washington Center for Mendelian Genomics..

Genet Epidemiol. 2016 Jul;40(5):432-41. doi: 10.1002/gepi.21972. Epub 2016 May 27.

PubMed [citation]

PMID:: 27229527
PMCID:: PMC4985012

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000882953.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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