NM_000441.2(SLC26A4):c.1015del (p.Glu339fs) AND Pendred syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 8, 2022
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:: RCV002308192.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)]

NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)

Gene:

SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)

HGVS:

NC_000007.14:g.107689066del
NG_008489.1:g.33432del
NM_000441.2:c.1015delMANE SELECT
NP_000432.1:p.Glu339fs
NC_000007.13:g.107329511del

Protein change:

E339fs

Molecular consequence:

NM_000441.2:c.1015del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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slbp2 stem-loop binding protein 2 [Danio rerio]
slbp2 stem-loop binding protein 2 [Danio rerio]
Gene ID:558918

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002601884	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 8, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002601884

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Mar 8, 2022)

unknown

clinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002601884.2

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

Description

NM_000441.1(SLC26A4):c.1015delG(E339Nfs*5) is expected to be pathogenic in the context of Pendred syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SLC26A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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