NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2018
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:
RCV000825944.4

Allele description [Variation Report for NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)]

NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)

Gene:
KCNQ4:potassium voltage-gated channel subfamily Q member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)
HGVS:
  • NC_000001.11:g.40819472G>T
  • NG_008139.3:g.40686G>T
  • NM_004700.4:c.834G>TMANE SELECT
  • NM_172163.3:c.834G>T
  • NP_004691.2:p.Thr278=
  • NP_751895.1:p.Thr278=
  • LRG_1378t1:c.834G>T
  • LRG_1378:g.40686G>T
  • LRG_1378p1:p.Thr278=
  • NC_000001.10:g.41285144G>T
  • NG_008139.1:g.40461G>T
  • NG_008139.2:g.40461G>T
  • NM_004700.3:c.834G>T
  • p.Thr278Thr
Links:
dbSNP: rs766877660
NCBI 1000 Genomes Browser:
rs766877660
Molecular consequence:
  • NM_004700.4:c.834G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172163.3:c.834G>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
SCV000967429Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 24, 2018) 		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, SCV000967429.1

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

Description

The p.Thr278Thr variant in KCNQ4 has not been previously reported in individuals with hearing loss, but has been identified in 3/126572 of KCNQ4 chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSN P rs766877660). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. This variant is l ocated in the last three bases of the exon, which is part of the 5? splice regio n. Computational tools do suggest an impact to splicing. However, this informati on is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Thr287Thr variant is uncertain. ACMG/AMP Criteria applied : PP3.

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

Last Updated: Sep 29, 2024