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NM_002700.3(POU4F3):c.378G>T (p.Thr126=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 10, 2013
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:
RCV000151673.4

Allele description [Variation Report for NM_002700.3(POU4F3):c.378G>T (p.Thr126=)]

NM_002700.3(POU4F3):c.378G>T (p.Thr126=)

Genes:
POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
LOC127814297:RBM27-POU4F3 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_002700.3(POU4F3):c.378G>T (p.Thr126=)
HGVS:
  • NC_000005.10:g.146339805G>T
  • NG_011885.1:g.5782G>T
  • NM_002700.3:c.378G>TMANE SELECT
  • NP_002691.1:p.Thr126=
  • LRG_1355t1:c.378G>T
  • LRG_1355:g.5782G>T
  • LRG_1355p1:p.Thr126=
  • NC_000005.9:g.145719368G>T
  • NM_002700.2:c.378G>T
  • p.Thr126Thr
Links:
dbSNP: rs113137300
NCBI 1000 Genomes Browser:
rs113137300
Molecular consequence:
  • NM_002700.3:c.378G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000199956Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Dec 10, 2013) 		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, SCV000199956.5

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

Description

Thr126Thr in exon 02 of POU4F3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. While this variant has been not been previou sly reported in individuals with hearing loss or in large population studies, an other variant at this position (378G>A) leading to a synonymous change has been identified in 0.8% (34/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs113137300).

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

Last Updated: Mar 26, 2023