NM_012188.5(FOXI1):c.*938dup AND Pendred syndrome

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Germline classification:: Likely benign (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:: RCV000274063.1

Allele description

NM_012188.5(FOXI1):c.*938dup

Gene:

FOXI1:forkhead box I1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q35.1

Genomic location:

Preferred name:

NM_012188.5(FOXI1):c.*938dup

HGVS:

NC_000005.10:g.170109549dup
NG_012068.1:g.8637dup
NG_012068.2:g.8637dup
NM_012188.5:c.*938dupMANE SELECT
NM_144769.3:c.*938dup
NC_000005.9:g.169536553dup
NM_012188.4:c.*938dupT

Links:

dbSNP: rs3839285

NCBI 1000 Genomes Browser:

rs3839285

Molecular consequence:

NM_012188.5:c.*938dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_144769.3:c.*938dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Pendred syndrome (PDS)
Synonyms:: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000456233	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (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

SCV000456233

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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 Clinical Services Laboratory,Illumina, SCV000456233.2

#	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: Apr 18, 2020

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