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NM_016366.3(CABP2):c.232G>A (p.Glu78Lys) AND Autosomal recessive nonsyndromic hearing loss 93

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2019
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:
RCV001250409.1

Allele description [Variation Report for NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)]

NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)

Gene:
CABP2:calcium binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys)
HGVS:
  • NC_000011.10:g.67521964C>T
  • NG_032982.1:g.6465G>A
  • NM_001318496.2:c.250G>A
  • NM_016366.3:c.232G>AMANE SELECT
  • NP_001305425.1:p.Glu84Lys
  • NP_057450.2:p.Glu78Lys
  • NC_000011.9:g.67289435C>T
  • NM_001318496.1:c.250G>A
Protein change:
E78K
Links:
dbSNP: rs1391730624
NCBI 1000 Genomes Browser:
rs1391730624
Molecular consequence:
  • NM_001318496.2:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016366.3:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 93
Synonyms:
Deafness, autosomal recessive 93
Identifiers:
MONDO: MONDO:0013963; MedGen: C3888355; Orphanet: 90636; OMIM: 614899

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001337669Laboratory of Prof. Karen Avraham, Tel Aviv University
no assertion criteria provided
Pathogenic
(Jul 6, 2019) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Jewish mixed ancestries (Syria/Tunis, Turkey/Ashk)germlineyes2not providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV001337669.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Jewish mixed ancestries (Syria/Tunis, Turkey/Ashk)2not providednot providedresearchnot provided

Description

Recessive, compound heterozygous with NM_001318496.1: c.655(+1)G>T; congenital, variable SNHL

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 23, 2022