NM_144966.5(FREM1):c.*2670T>A 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:: RCV000373328.14

Allele description [Variation Report for NM_144966.5(FREM1):c.*2670T>A]

NM_144966.5(FREM1):c.*2670T>A

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.*2670T>A

HGVS:

NC_000009.12:g.14734726A>T
NG_017005.2:g.180511T>A
NC_000009.11:g.14734724A>T
NM_144966.5:c.*2670T>A

Links:

dbSNP: rs199800913

NCBI 1000 Genomes Browser:

rs199800913

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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MULTISPECIES: signal recognition particle protein [Thalassolituus]
MULTISPECIES: signal recognition particle protein [Thalassolituus]
gi|505299045|ref|WP_015486147.1|

Protein
photosystem I subunit VII (chloroplast) [Antidesma bunius]
photosystem I subunit VII (chloroplast) [Antidesma bunius]
gi|2386969081|ref|YP_010576480.1|

Protein
MULTISPECIES: FMNH2-dependent alkanesulfonate monooxygenase [Cronobacter]
MULTISPECIES: FMNH2-dependent alkanesulfonate monooxygenase [Cronobacter]
gi|495057747|ref|WP_007782581.1|

Protein
hypothetical protein [Bdellovibrio bacteriovorus]
hypothetical protein [Bdellovibrio bacteriovorus]
gi|499476977|ref|WP_011163617.1|

Protein
MULTISPECIES: ATP synthase F1 subunit gamma [Staphylococcus]
MULTISPECIES: ATP synthase F1 subunit gamma [Staphylococcus]
gi|446079748|ref|WP_000157603.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000478983	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

SCV000478983

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, SCV000478983.2

#	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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