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NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 2022
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:
RCV004161867.1

Allele description [Variation Report for NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu)]

NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu)

Genes:
GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
KCTD4:potassium channel tetramerization domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.12
Genomic location:
Preferred name:
NM_198404.3(KCTD4):c.209C>T (p.Pro70Leu)
HGVS:
  • NC_000013.11:g.45194359G>A
  • NM_004128.3:c.305-13065G>AMANE SELECT
  • NM_198404.3:c.209C>TMANE SELECT
  • NP_940686.2:p.Pro70Leu
  • NC_000013.10:g.45768494G>A
  • NM_198404.2:c.209C>T
Protein change:
P70L
Molecular consequence:
  • NM_004128.3:c.305-13065G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198404.3:c.209C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

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  • ATP-dependent DNA helicase Q5 isoform X5 [Homo sapiens]
    ATP-dependent DNA helicase Q5 isoform X5 [Homo sapiens]
    gi|2462558831|ref|XP_054173800.1|
    Protein
  • HMGN2 Protein
    HMGN2 Protein
    An evolutionarily conserved 9-KDa nuclear protein that binds NUCLEOSOMES and may be involved in the process of CHROMATIN unfolding.<br/>Year introduced: 2002
    MeSH
  • Pulmonary Surfactant-Associated Protein D
    Pulmonary Surfactant-Associated Protein D
    An abundant pulmonary surfactant-associated protein that binds to a variety of lung pathogens and enhances their opsinization and killing by phagocytic cells. Surfactant prote...<br/>Year introduced: 2003(1990)
    MeSH
  • RNA, Transfer, Asp
    RNA, Transfer, Asp
    A transfer RNA which is specific for carrying aspartic acid to sites on the ribosomes in preparation for protein synthesis.<br/>Year introduced: 1991(1988)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003643571Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 26, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003643571.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.209C>T (p.P70L) alteration is located in exon 2 (coding exon 1) of the KCTD4 gene. This alteration results from a C to T substitution at nucleotide position 209, causing the proline (P) at amino acid position 70 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024