NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) AND Perrault syndrome 2

Clinical significance:Likely pathogenic (Last evaluated: May 20, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000782169.1

Allele description [Variation Report for NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)]

NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)

Gene:
HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
Other names:
p.R150C:CGT>TGT
HGVS:
  • NC_000005.10:g.140695556C>T
  • NG_021415.1:g.9124C>T
  • NG_032158.1:g.831G>A
  • NM_001278731.2:c.373C>T
  • NM_001278732.2:c.94-182C>T
  • NM_001363535.2:c.466C>T
  • NM_001363536.2:c.238C>T
  • NM_012208.4:c.448C>TMANE SELECT
  • NP_001265660.1:p.Arg125Cys
  • NP_001350464.1:p.Arg156Cys
  • NP_001350465.1:p.Arg80Cys
  • NP_036340.1:p.Arg150Cys
  • LRG_1376t1:c.448C>T
  • LRG_1374:g.831G>A
  • LRG_1376:g.9124C>T
  • LRG_1376p1:p.Arg150Cys
  • NC_000005.9:g.140075141C>T
  • NM_012208.2:c.448C>T
  • NM_012208.3:c.448C>T
Protein change:
R125C
Links:
dbSNP: rs140540222
NCBI 1000 Genomes Browser:
rs140540222
Molecular consequence:
  • NM_001278732.2:c.94-182C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278731.2:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363535.2:c.466C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363536.2:c.238C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012208.4:c.448C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Perrault syndrome 2 (PRLTS2)
Identifiers:
MONDO: MONDO:0013972; MedGen: C3554105; Orphanet: 2855; OMIM: 614926

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920637Molecular Genetics Laboratory,University Hospital Copenhagenno assertion criteria providedLikely pathogenic
(May 20, 2019)
paternal, maternalclinical testing

Description

Variants detected in a girl with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to her young age.

SCV000920637

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedclinical testing
not providedpaternalunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Genetics Laboratory,University Hospital Copenhagen, SCV000920637.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Variant detected as compound heterozygous, together with c.172A>G in three siblings (two girls) with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to their young age. Variant detected as compound heterozygous, together with c.980G>A in a girl with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to her young age.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknownnot providednot providednot providednot providednot providednot providednot provided
2maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 8, 2022

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