NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter) AND Fraser syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2003
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:: RCV000002947.3

Allele description [Variation Report for NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)]

NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.21

Genomic location:

Preferred name:

NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)

Other names:

S1423*

HGVS:

NC_000004.12:g.78407804C>G
NG_015812.2:g.355235C>G
NM_001166133.2:c.4271C>G
NM_025074.7:c.4271C>GMANE SELECT
NP_001159605.1:p.Ser1424Ter
NP_079350.5:p.Ser1424Ter
NC_000004.11:g.79328958C>G

Protein change:

S1424*; SER1423TER

Links:

OMIM: 607830.0005; dbSNP: rs120074159

NCBI 1000 Genomes Browser:

rs120074159

Molecular consequence:

NM_001166133.2:c.4271C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_025074.7:c.4271C>G - 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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GSTUM_00001845001 [Tuber melanosporum]
GSTUM_00001845001 [Tuber melanosporum]
Gene ID:9188283

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023105	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023105

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2003)

germline

literature only

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, et al.

Nat Genet. 2003 Jun;34(2):203-8.

PubMed [citation]

PMID:: 12766769

Details of each submission

From OMIM, SCV000023105.2

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

Description

In a family with Fraser syndrome (FRASRS1; 219000), McGregor et al. (2003) identified homozygosity for a C-to-G transversion at nucleotide 4301 in exon 31 of the FRAS1 gene, resulting in a ser1423-to-ter (S1423X) truncation.

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

Last Updated: Aug 5, 2023

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