NM_031475.2(ESPN):c.2339_2341delAGG AND Autosomal recessive nonsyndromic hearing loss 36

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 25, 2020
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:: RCV002471195.8

Allele description [Variation Report for NM_031475.2(ESPN):c.2339_2341delAGG]

NM_031475.2(ESPN):c.2339_2341delAGG

Gene:

ESPN:espin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p36.31

Genomic location:

Preferred name:

NM_031475.2(ESPN):c.2339_2341delAGG

HGVS:

NC_000001.11:g.6457182AGG[5]
NG_015866.1:g.37395AGG[5]
LRG_1281:g.37395AGG[5]
NC_000001.10:g.6517242AGG[5]
NC_000001.10:g.6517242_6517244del
NM_031475.2:c.2339_2341delAGG

Links:

dbSNP: rs1399633263

NCBI 1000 Genomes Browser:

rs1399633263

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002769263	Victorian Clinical Genetics Services, Murdoch Childrens Research Institute See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 25, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29572253, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002769263

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 25, 2020)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.

Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S.

J Med Genet. 2018 Jul;55(7):479-488. doi: 10.1136/jmedgenet-2017-105221. Epub 2018 Mar 23.

PubMed [citation]

PMID:: 29572253
PMCID:: PMC6232856

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 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, SCV002769263.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as 3B-VUS. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0214 - In-frame insertion/deletion fully contained in a repetitive region that has high conservation (exon 11 of 13). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0600 - Variant is located in an annotated domain or motif (Actin binding motif; PMID: 29572253). (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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