NM_005548.3(KARS1):c.433T>C (p.Tyr145His) AND Nonsyndromic genetic hearing loss

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2017
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:: RCV000627042.2

Allele description [Variation Report for NM_005548.3(KARS1):c.433T>C (p.Tyr145His)]

NM_005548.3(KARS1):c.433T>C (p.Tyr145His)

Gene:

KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_005548.3(KARS1):c.433T>C (p.Tyr145His)

HGVS:

NC_000016.10:g.75636503A>G
NG_028025.1:g.16185T>C
NM_001130089.2:c.517T>C
NM_001378148.1:c.-36T>C
NM_005548.3:c.433T>CMANE SELECT
NP_001123561.1:p.Tyr173His
NP_001123561.1:p.Tyr173His
NP_005539.1:p.Tyr145His
LRG_366t1:c.517T>C
LRG_366:g.16185T>C
LRG_366p1:p.Tyr173His
NC_000016.9:g.75670401A>G
NM_001130089.1:c.517T>C
p.(Tyr173His)

Protein change:

Y145H; TYR173HIS

Links:

OMIM: 601421.0003; dbSNP: rs397514745

NCBI 1000 Genomes Browser:

rs397514745

Molecular consequence:

NM_001378148.1:c.-36T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001130089.2:c.517T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005548.3:c.433T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Nonsyndromic genetic hearing loss
Synonyms:: Nonsyndromic hearing loss and deafness; Non-syndromic genetic deafness; Nonsyndromic genetic deafness
Identifiers:: MONDO: MONDO:0019497; MedGen: C5680182; Orphanet: 87884

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000747747	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 20, 2017)	inherited	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

SCV000747747

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 20, 2017)

inherited

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	inherited	yes	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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000747747.2

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

Description

This homozygous variant was identified in a female patient with non-syndromic and progressive deafness, due to bilateral vestibulo-cochlear dysfunction. One of her two brothers who is also deaf also harbours this variant in a homozygous state.

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

Last Updated: Dec 24, 2023

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