U.S. flag

An official website of the United States government

NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 23, 2021
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:
RCV001868220.4

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)]

NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)

Genes:
LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)
HGVS:
  • NC_000007.14:g.107710139TA[3]
  • NG_008489.1:g.54505TA[3]
  • NM_000441.2:c.2177_2178dupMANE SELECT
  • NP_000432.1:p.Leu727fs
  • NC_000007.13:g.107350583_107350584insTA
  • NC_000007.13:g.107350584TA[3]
Protein change:
L727fs
Links:
dbSNP: rs1298217152
NCBI 1000 Genomes Browser:
rs1298217152
Molecular consequence:
  • NM_000441.2:c.2177_2178dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002159960Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 23, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

Soh LM, Druce M, Grossman AB, Differ AM, Rajput L, Bitner-Glindzicz M, Korbonits M.

Eur J Endocrinol. 2015 Feb;172(2):217-26. doi: 10.1530/EJE-14-0679. Epub 2014 Nov 13.

PubMed [citation]
PMID:
25394566
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002159960.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SLC26A4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu727Tyrfs*8) 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).

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

Last Updated: Sep 29, 2024