NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer) AND Fraser syndrome 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000257971.1

Allele description [Variation Report for NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)]

NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)

Gene:

FRAS1:Fraser extracellular matrix complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q21.21

Genomic location:

Preferred name:

NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)

HGVS:

NC_000004.12:g.78515911del
NG_015812.2:g.463342del
NM_025074.7:c.10287delMANE SELECT
NP_079350.5:p.Leu3428_Tyr3429insTer
NC_000004.11:g.79437065del
NG_015812.1:g.463342del
NM_025074.6:c.10287delC

Links:

dbSNP: rs886037765

NCBI 1000 Genomes Browser:

rs886037765

Molecular consequence:

NM_025074.7:c.10287del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Fraser syndrome 1 (FRASRS1)
Synonyms:: Cryptophthalmos with other malformations
Identifiers:: MONDO: MONDO:0054737; MedGen: C4551480; Orphanet: 2052; OMIM: 219000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258454	Centre for Genomic and Experimental Medicine, University of Edinburgh	no assertion criteria provided	Pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258454

Centre for Genomic and Experimental Medicine, University of Edinburgh

no assertion criteria provided

Pathogenic

de novo

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	de novo	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

De novo mutations in autosomal recessive congenital malformations.

Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner J, Porteous M, Aitman TJ, Evans MJ.

Genet Med. 2016 Dec;18(12):1325-1326. doi: 10.1038/gim.2016.62. Epub 2016 Jun 9. No abstract available.

PubMed [citation]

PMID:: 27280866
PMCID:: PMC7422304

Details of each submission

From Centre for Genomic and Experimental Medicine, University of Edinburgh, SCV000258454.1

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

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

Last Updated: Aug 5, 2023

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