NM_001199799.2(ILDR1):c.1180del (p.Glu394fs) AND Autosomal recessive nonsyndromic hearing loss 42

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2023
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:: RCV003486220.2

Allele description [Variation Report for NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)]

NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)

Gene:

ILDR1:immunoglobulin like domain containing receptor 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)

HGVS:

NC_000003.12:g.121993571del
NG_031870.2:g.71986del
NM_001199799.2:c.1180delMANE SELECT
NM_001199800.2:c.913del
NM_175924.4:c.1048del
NP_001186728.1:p.Glu394fs
NP_001186729.1:p.Glu305fs
NP_787120.1:p.Glu350fs
LRG_1377t1:c.1180del
LRG_1377:g.71986del
LRG_1377p1:p.Glu394fs
NC_000003.11:g.121712418del
NM_001199799.1:c.1180del

Protein change:

E305fs

Molecular consequence:

NM_001199799.2:c.1180del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001199800.2:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_175924.4:c.1048del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 42
Synonyms:: Deafness, autosomal recessive 42
Identifiers:: MONDO: MONDO:0012326; MedGen: C1864818; Orphanet: 90636; OMIM: 609646

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004236579	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 20, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004236579

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 20, 2023)

germline

clinical testing

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

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

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 Revvity Omics, Revvity, SCV004236579.1

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

#	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: Mar 16, 2024

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