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NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe) AND Kleefstra syndrome 2

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 19, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001420624.4

Allele description [Variation Report for NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)]

NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)

Gene:
KMT2C:lysine methyltransferase 2C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)
HGVS:
  • NC_000007.14:g.152148769C>A
  • NG_033948.1:g.292237G>T
  • NM_170606.3:c.13158G>TMANE SELECT
  • NP_733751.2:p.Leu4386Phe
  • NC_000007.13:g.151845854C>A
Protein change:
L4386F
Links:
dbSNP: rs762380795
NCBI 1000 Genomes Browser:
rs762380795
Molecular consequence:
  • NM_170606.3:c.13158G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Kleefstra syndrome 2 (KLEFS2)
Identifiers:
MONDO: MONDO:0054701; MedGen: C4540395; OMIM: 617768

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622948New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jun 18, 2020) 		inheritedclinical testing

Citation Link,

SCV003812614Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 19, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedinheritedunknown1not providednot provided1not 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 New York Genome Center - CSER-NYCKidSeq, SCV001622948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

From Revvity Omics, Revvity, SCV003812614.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024