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NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs) AND Pendred syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 17, 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:
RCV002309049.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)]

NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)

Genes:
SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
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.78_79del (p.Tyr27fs)
HGVS:
  • NC_000007.14:g.107661719_107661720del
  • NG_008489.1:g.6085_6086del
  • NM_000441.2:c.78_79delMANE SELECT
  • NP_000432.1:p.Tyr27fs
  • NC_000007.13:g.107302164_107302165del
  • NR_028137.1:n.80_81del
Protein change:
Y27fs
Molecular consequence:
  • NM_000441.2:c.78_79del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_028137.1:n.80_81del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602858Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 17, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002602858.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000441.1(SLC26A4):c.78_79delCT(Y27Qfs*59) 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2022