NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 22, 2024
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:: RCV001055826.7

Allele description

NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)

Genes:

LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)

HGVS:

NC_000007.14:g.107710138_107710141dup
NG_008489.1:g.54504_54507dup
NM_000441.2:c.2174_2177dupMANE SELECT
NP_000432.1:p.Leu727fs
NC_000007.13:g.107350582_107350583insCTAT
NC_000007.13:g.107350583_107350586dup
NM_000441.1:c.2174_2177dup
NM_000441.2:c.2174_2177dupCTATMANE SELECT

Protein change:

L727fs

Links:

dbSNP: rs1421964916

NCBI 1000 Genomes Browser:

rs1421964916

Molecular consequence:

NM_000441.2:c.2174_2177dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Helicobacter pylori strain HP09046, whole genome shotgun sequencing project
Helicobacter pylori strain HP09046, whole genome shotgun sequencing project
gi|1489340973|gb|MVXK00000000.1|MVX 0000

Nucleotide
Helicobacter pylori strain HP12014, whole genome shotgun sequencing project
Helicobacter pylori strain HP12014, whole genome shotgun sequencing project
gi|1489340402|gb|MVWV00000000.1|MVW 0000

Nucleotide
Helicobacter pylori strain HP15036, whole genome shotgun sequencing project
Helicobacter pylori strain HP15036, whole genome shotgun sequencing project
gi|1489337659|gb|MVTZ00000000.1|MVT 0000

Nucleotide
Helicobacter pylori strain HP15033, whole genome shotgun sequencing project
Helicobacter pylori strain HP15033, whole genome shotgun sequencing project
gi|1489337833|gb|MVUC00000000.1|MVU 0000

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001220236	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 22, 2024)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 16283880, 26252218, 26445815, 17125574, 23638949, 24224479, 25394566, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001220236

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 22, 2024)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

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

Citations

PubMed

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R.

Clin Genet. 2005 Dec;68(6):506-12.

PubMed [citation]

PMID:: 16283880

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

Jiang Y, Huang S, Deng T, Wu L, Chen J, Kang D, Xu X, Li R, Han D, Dai P.

PLoS One. 2015;10(8):e0135088. doi: 10.1371/journal.pone.0135088.

PubMed [citation]

PMID:: 26252218
PMCID:: PMC4529078

See all PubMed Citations (8)

Details of each submission

From Invitae, SCV001220236.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This sequence change creates a premature translational stop signal (p.Leu727Tyrfs*28) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with Pendred syndrome, non-syndromic hearing loss, or hearing loss and dilatation of the vestibular aqueduct (PMID: 17125574, 23638949, 24224479, 25394566). This variant is also known as 2177-2178insCTAT. ClinVar contains an entry for this variant (Variation ID: 851431). For these reasons, this variant has been classified as Pathogenic.

#	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: Jun 17, 2024

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