U.S. flag

An official website of the United States government

NM_147196.3(TMIE):c.211+5G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 5, 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:
RCV000605722.4

Allele description [Variation Report for NM_147196.3(TMIE):c.211+5G>A]

NM_147196.3(TMIE):c.211+5G>A

Gene:
TMIE:transmembrane inner ear [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_147196.3(TMIE):c.211+5G>A
HGVS:
  • NC_000003.12:g.46705912G>A
  • NG_011628.1:g.9580G>A
  • NM_001370524.1:c.52+5G>A
  • NM_001370525.1:c.52+5G>A
  • NM_147196.3:c.211+5G>AMANE SELECT
  • NC_000003.11:g.46747402G>A
  • NM_147196.2:c.211+5G>A
Links:
dbSNP: rs375470385
NCBI 1000 Genomes Browser:
rs375470385
Molecular consequence:
  • NM_001370524.1:c.52+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370525.1:c.52+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_147196.3:c.211+5G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711214Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jul 5, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711214.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The c.211+5G>A variant in TMIE has not been previously reported in individuals with hearing los s, but has been identified in 8/126710 European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs375470385). A lthough this variant has been seen in the general population, its frequency is n ot high enough to rule out a pathogenic role. This variant is located in the 5' splice region. Computational tools suggest an impact to splicing. However, this information is not predictive enough to determine pathogenicity. In summary, whi le there is some suspicion for a pathogenic role, the clinical significance of t he c.211+5G>A variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Mar 4, 2023