m.7498G>A AND not specified

Clinical significance:Likely benign (Last evaluated: Jul 28, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035055.2

Allele description [Variation Report for m.7498G>A]

m.7498G>A

Gene:
MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.7498G>A
HGVS:
NC_012920.1:m.7498G>A
Links:
dbSNP: 111033324
NCBI 1000 Genomes Browser:
rs111033324
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058695Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jul 28, 2013)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided55not providednot providednot providedclinical testing

Citations

PubMed

The search of a genetic basis for noise-induced hearing loss (NIHL).

Abreu-Silva RS, Rincon D, Horimoto AR, Sguillar AP, Ricardo LA, Kimura L, Batissoco AC, Auricchio MT, Otto PA, Mingroni-Netto RC.

Ann Hum Biol. 2011 Mar;38(2):210-8. doi: 10.3109/03014460.2010.513774. Epub 2010 Sep 3.

PubMed [citation]
PMID:
20812880

Insights into the demographic history of African Pygmies from complete mitochondrial genomes.

Batini C, Lopes J, Behar DM, Calafell F, Jorde LB, van der Veen L, Quintana-Murci L, Spedini G, Destro-Bisol G, Comas D.

Mol Biol Evol. 2011 Feb;28(2):1099-110. doi: 10.1093/molbev/msq294. Epub 2010 Nov 1.

PubMed [citation]
PMID:
21041797
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000058695.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (4)

Description

7498G>A in MTTS1: This variant is not expected to have clinical significance because it has been reported 2/104 (1.9%) healthy individuals and 1/107 (0.9%) individual with noise-induced hearing loss (Abreu-Silva 2011), and is part of a haplotype that is common in various African populations (Batini 2011, Barbieri 2011, mtDB-Human Mitochondrial Database: http://www.mtdb.igp.uu.se/index.html).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided5not provided5not provided

Last Updated: Aug 16, 2017