NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln) AND Bladder exstrophy-epispadias-cloacal extrophy complex

Germline classification:: Benign (1 submission)
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:: RCV004556101.1

Allele description [Variation Report for NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)]

NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)

Gene:

CELSR1:cadherin EGF LAG seven-pass G-type receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.31

Genomic location:

Preferred name:

NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)

HGVS:

NC_000022.11:g.46378661C>T
NG_030466.2:g.163510G>A
NM_001378328.1:c.7313G>AMANE SELECT
NM_014246.4:c.7313G>A
NP_001365257.1:p.Arg2438Gln
NP_055061.1:p.Arg2438Gln
NC_000022.10:g.46774558C>T

Protein change:

R2438Q

Molecular consequence:

NM_001378328.1:c.7313G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014246.4:c.7313G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bladder exstrophy-epispadias-cloacal extrophy complex
Synonyms:: Exstrophy of the bladder-epispadias; Bladder exstrophy and epispadias complex; Bladder exstrophy-epispadias-cloacal exstrophy complex
Identifiers:: MONDO: MONDO:0700039; MedGen: C1838703; Orphanet: 93930; OMIM: 600057

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005045334	Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005045334

Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

unknown

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

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

Details of each submission

From Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine, SCV005045334.1

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

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

Last Updated: Aug 4, 2024

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