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NM_014332.3(SMPX):c.87dup (p.Gly30fs) AND X-linked deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000626484.9

Allele description [Variation Report for NM_014332.3(SMPX):c.87dup (p.Gly30fs)]

NM_014332.3(SMPX):c.87dup (p.Gly30fs)

Gene:
SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_014332.3(SMPX):c.87dup (p.Gly30fs)
HGVS:
  • NC_000023.11:g.21743795dup
  • NG_031916.1:c.87dupA
  • NG_031916.1:g.19366dup
  • NM_014332.3:c.87dupMANE SELECT
  • NP_055147.1:p.Gly30fs
  • LRG_1358t1:c.87dup
  • LRG_1358:g.19366dup
  • LRG_1358p1:p.Gly30fs
  • NC_000023.10:g.21761913dup
  • NM_014332.2:c.87dupA
  • NR_045617.2:n.274dup
  • NG_031916.1:c.87dupA
Protein change:
G30fs
Links:
dbSNP: rs1569308571
NCBI 1000 Genomes Browser:
rs1569308571
Molecular consequence:
  • NM_014332.3:c.87dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_045617.2:n.274dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
X-linked deafness
Identifiers:
MONDO: MONDO:0020768; MedGen: CN043651; OMIM: PS304500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607737Yong Feng Lab, Central South University
no assertion criteria provided
Pathogenic
(Oct 1, 2017) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinesegermlineyes1not providednot providednot providednot providedresearch
chinesegermlineyes121not providednot providednot providedresearch

Details of each submission

From Yong Feng Lab, Central South University, SCV000607737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedresearchnot provided
2chinese12not providednot providedresearchnot provided

Description

In the pedigree, the type of most subjects is sensorineural hearing loss that presents binaural symmetrical decrease, and one patient has severe hearing loss in the right ear and normal hearing in the left ear. Male patients onset age is earlier than female patients, male patients onset age is 7-years-old , and female patients onset age is more than 30-years-old. The serious rate of hearing loss in male patients is more than that in female patients. Male patients were fast progressive hearing loss, to the age of twenty, they have developed severe sensorineural hearing loss. Female patients hearing declined slowly, they present with sever hearing loss at 45-50years old. The hearing loss in those patients appears to affect from high and middle frequencies to all frequencies. The X-linked dominance pattern of inheritance was detected based on the absence of male-to-male transmission, early onset and a more severe phenotype in males than in females.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided12not provided1not provided

Last Updated: Jun 23, 2024