NM_144966.5(FREM1):c.*1205T>C AND Oculotrichoanal syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000398257.14

Allele description [Variation Report for NM_144966.5(FREM1):c.*1205T>C]

NM_144966.5(FREM1):c.*1205T>C

Gene:

FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p22.3

Genomic location:

Preferred name:

NM_144966.5(FREM1):c.*1205T>C

HGVS:

NC_000009.12:g.14736191A>G
NG_017005.2:g.179046T>C
NC_000009.11:g.14736189A>G
NM_144966.5:c.*1205T>C

Links:

dbSNP: rs886063759

NCBI 1000 Genomes Browser:

rs886063759

Condition(s)

Name:: Oculotrichoanal syndrome (MOTA)
Synonyms:: Marles Greenberg Persaud syndrome; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies; Marles syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009560; MedGen: C1855425; OMIM: 248450

Recent activity

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Homo sapiens family with sequence similarity 83 member C (FAM83C), mRNA
Homo sapiens family with sequence similarity 83 member C (FAM83C), mRNA
gi|1519315762|ref|NM_178468.6|

Nucleotide
PREDICTED: Chrysoperla carnea O-glucosyltransferase rumi homolog (LOC123306131),...
PREDICTED: Chrysoperla carnea O-glucosyltransferase rumi homolog (LOC123306131), mRNA
gi|2125089092|ref|XM_044888019.1|

Nucleotide
PREDICTED: Homo sapiens family with sequence similarity 177 member B (FAM177B), ...
PREDICTED: Homo sapiens family with sequence similarity 177 member B (FAM177B), transcript variant X3, mRNA
gi|2217267434|ref|XM_017001281.2|

Nucleotide
hyaluronan-binding protein 2 isoform X3 [Mus musculus]
hyaluronan-binding protein 2 isoform X3 [Mus musculus]
gi|1720395163|ref|XP_030106767.1|

Protein
Homo sapiens mRNA for inositol 1,4,5-trisphosphate 3-kinase isoform B
Homo sapiens mRNA for inositol 1,4,5-trisphosphate 3-kinase isoform B
gi|14329671|emb|AJ242780.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000479015	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000479015

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000479015.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 10, 2024

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