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NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2016
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:
RCV000605952.4

Allele description [Variation Report for NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg)]

NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg)

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.513C>A (p.Ser171Arg)
HGVS:
  • NC_000005.10:g.146339940C>A
  • NG_011885.1:g.5917C>A
  • NM_002700.3:c.513C>AMANE SELECT
  • NP_002691.1:p.Ser171Arg
  • LRG_1355t1:c.513C>A
  • LRG_1355:g.5917C>A
  • LRG_1355p1:p.Ser171Arg
  • NC_000005.9:g.145719503C>A
  • NM_002700.2:c.513C>A
Protein change:
S171R
Links:
dbSNP: rs148985828
NCBI 1000 Genomes Browser:
rs148985828
Molecular consequence:
  • NM_002700.3:c.513C>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000711194Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 4, 2016) 		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, SCV000711194.2

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

Description

The p.Ser171Arg variant in POU4F3 has not been previously reported in individual s with hearing loss, but has been identified in 13/65634 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s148985828). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analyses do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of this varian t is uncertain.

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

Last Updated: Sep 29, 2024