NM_015045.5(WAPL):c.2192G>A (p.Arg731His) AND WAPL-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 8, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000680250.1

Allele description [Variation Report for NM_015045.5(WAPL):c.2192G>A (p.Arg731His)]

NM_015045.5(WAPL):c.2192G>A (p.Arg731His)

Gene:

WAPL:WAPL cohesin release factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_015045.5(WAPL):c.2192G>A (p.Arg731His)

HGVS:

NC_000010.11:g.86467457C>T
NM_001318328.2:c.2174G>A
NM_015045.5:c.2192G>AMANE SELECT
NP_001305257.1:p.Arg725His
NP_055860.1:p.Arg731His
NC_000010.10:g.88227214C>T
NM_015045.3:c.2192G>A
c.2192G>A(p.R731H)

Protein change:

R725H

Links:

dbSNP: rs1564570621

NCBI 1000 Genomes Browser:

rs1564570621

Molecular consequence:

NM_001318328.2:c.2174G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015045.5:c.2192G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: WAPL-related disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747061	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 8, 2018)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 30158690

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000747061

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 8, 2018)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, et al.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

PubMed [citation]

PMID:: 30158690
PMCID:: PMC6395558

Details of each submission

From Baylor Genetics, SCV000747061.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: Apr 23, 2022

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