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NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) AND Autosomal recessive nonsyndromic hearing loss 36

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2016
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:
RCV000477776.2

Allele description [Variation Report for NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)]

NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)

Gene:
ESPN:espin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)
HGVS:
  • NC_000001.11:g.6444538C>T
  • NG_015866.1:g.24751C>T
  • NM_001367473.1:c.1048C>T
  • NM_001367474.1:c.1048C>T
  • NM_031475.3:c.1048C>TMANE SELECT
  • NP_001354402.1:p.Pro350Ser
  • NP_001354403.1:p.Pro350Ser
  • NP_113663.2:p.Pro350Ser
  • LRG_1281t1:c.1048C>T
  • LRG_1281:g.24751C>T
  • LRG_1281p1:p.Pro350Ser
  • NC_000001.10:g.6504598C>T
  • NM_031475.2:c.1048C>T
Protein change:
P350S
Links:
dbSNP: rs115143295
NCBI 1000 Genomes Browser:
rs115143295
Molecular consequence:
  • NM_001367473.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367474.1:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_031475.3:c.1048C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 36
Synonyms:
Deafness, autosomal recessive 36, with or without vestibular involvement; DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH VESTIBULAR INVOLVEMENT; Deafness, autosomal recessive 36
Identifiers:
MONDO: MONDO:0012170; MedGen: C1837007; Orphanet: 90636; OMIM: 609006

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536880Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(Mar 7, 2016) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024