NM_012208.4(HARS2):c.647G>A (p.Arg216Gln) AND Perrault syndrome 2

Clinical significance:Pathogenic (Last evaluated: Oct 26, 2020)

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:
RCV001261943.1

Allele description [Variation Report for NM_012208.4(HARS2):c.647G>A (p.Arg216Gln)]

NM_012208.4(HARS2):c.647G>A (p.Arg216Gln)

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.647G>A (p.Arg216Gln)
Other names:
R191Q
HGVS:
  • NC_000005.10:g.140696116G>A
  • NG_021415.1:g.9684G>A
  • NG_032158.1:g.271C>T
  • NM_001278731.2:c.572G>A
  • NM_001278732.2:c.215G>A
  • NM_001363535.2:c.665G>A
  • NM_001363536.2:c.437G>A
  • NM_012208.4:c.647G>AMANE SELECT
  • NP_001265660.1:p.Arg191Gln
  • NP_001265661.1:p.Arg72Gln
  • NP_001350464.1:p.Arg222Gln
  • NP_001350465.1:p.Arg146Gln
  • NP_036340.1:p.Arg216Gln
  • LRG_1376t1:c.647G>A
  • LRG_1374:g.271C>T
  • LRG_1376:g.9684G>A
  • LRG_1376p1:p.Arg216Gln
  • NC_000005.9:g.140075701G>A
Protein change:
R146Q; ARG191GLN
Links:
OMIM: 600783.0003; dbSNP: rs1229581230
NCBI 1000 Genomes Browser:
rs1229581230
Molecular consequence:
  • NM_001278731.2:c.572G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278732.2:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363535.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363536.2:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012208.4:c.647G>A - 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
SCV001439294OMIMno assertion criteria providedPathogenic
(Oct 26, 2020)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.

Zou S, Mei X, Yang W, Zhu R, Yang T, Hu H.

Clin Genet. 2020 Feb;97(2):352-356. doi: 10.1111/cge.13638. Epub 2019 Sep 10.

PubMed [citation]
PMID:
31486067

Details of each submission

From OMIM, SCV001439294.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Han Chinese patient (D2092) with Perrault syndrome-2 (PRLTS2; 614926) with isolated severe to profound sensorineural hearing loss, Zou et al. (2020) identified compound heterozygous mutations in the HARS gene: a c.572G-A transition (c.572G-A, NM_001278731), resulting in an arg191-to-gln (R191Q) substitution, and a c.622C-T transition, resulting in an arg208-to-cys (R208C; 600783.0004) substitution. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. The mutations were shown to be in trans, with each parent confirmed to carry one mutation. The R191Q variant was not reported in the 1000 Genomes Project database; it was reported in the gnomAD database at a frequency of 0.00000797 and was identified in an internal database of 414 Han Chinese control subjects at a frequency of 0.00023652. The R208C variant was not reported in the 1000 Genomes Project database or in an internal database of 2,114 Han Chinese control subjects, but was reported in the gnomAD database at a frequency of 0.00001593. Functional studies were not performed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 8, 2022

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