NM_003466.4(PAX8):c.237dup (p.Lys80fs) AND Hypothyroidism, congenital, nongoitrous, 2

Germline classification:: Likely 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:: RCV001795825.1

Allele description [Variation Report for NM_003466.4(PAX8):c.237dup (p.Lys80fs)]

NM_003466.4(PAX8):c.237dup (p.Lys80fs)

Genes:

PAX8-AS1:PAX8 antisense RNA 1 [Gene - HGNC]
PAX8:paired box 8 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2q14.1

Genomic location:

Preferred name:

NM_003466.4(PAX8):c.237dup (p.Lys80fs)

HGVS:

NC_000002.12:g.113244580dup
NG_012384.1:g.39343dup
NM_003466.4:c.237dupMANE SELECT
NM_013952.4:c.237dup
NM_013953.4:c.237dup
NM_013992.4:c.237dup
NP_003457.1:p.Lys80fs
NP_039246.1:p.Lys80fs
NP_039247.1:p.Lys80fs
NP_054698.1:p.Lys80fs
NC_000002.11:g.114002157dup

Protein change:

K80fs

Links:

dbSNP: rs2104498488

NCBI 1000 Genomes Browser:

rs2104498488

Molecular consequence:

NM_003466.4:c.237dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013952.4:c.237dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013953.4:c.237dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_013992.4:c.237dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Hypothyroidism, congenital, nongoitrous, 2 (CHNG2)
Synonyms:: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
Identifiers:: MONDO: MONDO:0024264; MedGen: C1869118; Orphanet: 95712; OMIM: 218700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002037118	Institute of Human Genetics, Cologne University	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002037118

Institute of Human Genetics, Cologne University

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV002037118.1

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

Last Updated: Dec 24, 2023

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