NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) AND Exstrophy-epispadias complex

Germline classification:: Uncertain significance (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:: RCV003389394.1

Allele description [Variation Report for NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)]

NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)

Gene:

FANCE:FA complementation group E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

Preferred name:

NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)

HGVS:

NC_000006.12:g.35457944C>A
NG_011708.1:g.10584C>A
NM_021922.3:c.929C>AMANE SELECT
NP_068741.1:p.Pro310Gln
NP_068741.1:p.Pro310Gln
LRG_498t1:c.929C>A
LRG_498:g.10584C>A
LRG_498p1:p.Pro310Gln
NC_000006.11:g.35425721C>A
NM_021922.2:c.929C>A

Protein change:

P310Q

Links:

dbSNP: rs139600847

NCBI 1000 Genomes Browser:

rs139600847

Molecular consequence:

NM_021922.3:c.929C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Exstrophy-epispadias complex
Synonyms:: OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS; Omphalocele exstrophy imperforate anus; OEIS complex; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0017919; MedGen: C1850321; Orphanet: 322; Orphanet: 93929; OMIM: 258040

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004101642	Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	de novo	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004101642

Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

de novo

curation

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	curation

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, SCV004101642.1

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Apr 7, 2025

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