NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) AND Autosomal recessive nonsyndromic hearing loss 77

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 16, 2020
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:: RCV001275167.1

Allele description [Variation Report for NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)]

NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)

Gene:

LOXHD1:lipoxygenase homology PLAT domains 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

18q21.1

Genomic location:

Preferred name:

NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)

HGVS:

NC_000018.10:g.46524547_46524548insGA
NG_016646.2:g.137486_137487insTC
NM_001145472.3:c.1461_1462insTC
NM_001308013.2:c.1173_1174insTC
NM_001384474.1:c.4794_4795insTCMANE SELECT
NM_144612.7:c.4794_4795insTC
NP_001138944.1:p.Ile488fs
NP_001294942.1:p.Ile392fs
NP_001371403.1:p.Ile1599fs
NP_653213.6:p.Ile1599fs
NP_653213.6:p.Ile1599fs
NC_000018.9:g.44104510_44104511insGA
NC_000018.9:g.44104510_44104511insGA
NG_016646.1:g.137486_137487insTC
NM_144612.6:c.4794_4795insTC

Protein change:

I1599fs

Links:

dbSNP: rs1598914701

NCBI 1000 Genomes Browser:

rs1598914701

Molecular consequence:

NM_001145472.3:c.1461_1462insTC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001308013.2:c.1173_1174insTC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001384474.1:c.4794_4795insTC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144612.7:c.4794_4795insTC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 77
Synonyms:: Deafness, autosomal recessive 77
Identifiers:: MONDO: MONDO:0013119; MedGen: C2746083; Orphanet: 90636; OMIM: 613079

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001460012	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001460012

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Sep 16, 2020)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV001460012.1

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

#	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 5, 2024

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