NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys) AND Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Clinical significance:Likely pathogenic (Last evaluated: Mar 30, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001374674.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)]

NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)
HGVS:
  • NC_000007.14:g.107694650C>G
  • NG_008489.1:g.39016C>G
  • NM_000441.2:c.1371C>GMANE SELECT
  • NP_000432.1:p.Asn457Lys
  • NC_000007.13:g.107335095C>G
  • NM_000441.1:c.1371C>G
Protein change:
N457K
Molecular consequence:
  • NM_000441.2:c.1371C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (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

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001571602Neurogenetic Laboratory,Second Faculty of Medicine, Charles Universitycriteria provided, single submitter
Likely pathogenic
(Mar 30, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Neurogenetic Laboratory,Second Faculty of Medicine, Charles University, SCV001571602.1

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

Last Updated: Oct 7, 2021

Support Center