U.S. flag

An official website of the United States government

NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser) AND Autosomal dominant nonsyndromic hearing loss 15

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 2021
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:
RCV001728073.2

Allele description [Variation Report for NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser)]

NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser)

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.373C>T (p.Pro125Ser)
HGVS:
  • NC_000005.10:g.146339800C>T
  • NG_011885.1:g.5777C>T
  • NM_002700.3:c.373C>TMANE SELECT
  • NP_002691.1:p.Pro125Ser
  • LRG_1355t1:c.373C>T
  • LRG_1355:g.5777C>T
  • LRG_1355p1:p.Pro125Ser
  • NC_000005.9:g.145719363C>T
Protein change:
P125S
Links:
dbSNP: rs1760423963
NCBI 1000 Genomes Browser:
rs1760423963
Molecular consequence:
  • NM_002700.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 15
Synonyms:
Deafness, autosomal dominant 15; DEAFNESS, AUTOSOMAL DOMINANT 52
Identifiers:
MONDO: MONDO:0011226; MedGen: C1865366; Orphanet: 90635; OMIM: 602459

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
SCV001976484Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 6, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV001976484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

The variant c.373C>T (p.(Pro125Ser)) in exon 2 of the POU4F3-gene is not found in the gnomAD database, it affects a weakly conserved nucleotide, a moderately conserved amino acid and there is a moderate physicochemical difference between Pro and Ser. This variant has a benign computational verdict based on 11 benign predictions from BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, PrimateAI and SIFT vs 1 pathogenic prediction from MutationTaster. p.Pro125Ser is a missense mutation at an amino acid residue where one different missense change is determined to be likely pathogenic / pathogenic in ClinVar (p.Pro125Leu, ClinVar Variation ID: 562074). ACMG criteria used for classification: PM2, PM5, BP4.

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

Last Updated: Aug 18, 2024