U.S. flag

An official website of the United States government

NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) AND Autosomal recessive nonsyndromic hearing loss 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 30, 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:
RCV003473658.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)]

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)

Name:
Autosomal recessive nonsyndromic hearing loss 4 (DFNB4)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791

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
SCV004201858Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 30, 2024) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV004201858.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024