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NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 5, 2017
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:
RCV000723509.5

Allele description [Variation Report for NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del)]

NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del)

Gene:
KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del)
HGVS:
  • NC_000012.12:g.49051190_49051270del
  • NG_027827.1:g.9070_9150del
  • NM_003482.4:c.2428_2508delMANE SELECT
  • NP_003473.3:p.Thr810_Gln836del
  • NC_000012.11:g.49444958_49445038del
  • NC_000012.11:g.49444973_49445053del
  • NM_003482.3:c.2428_2508del81
  • NM_003482.3:c.2428_2508delACTGAGGAGCCGCACCTGTCTCCTGTGCCTGAGGAGCCATGCTTGTCCCCCCAACCTGAGGAATCACACCTGTCCCCCCAG
Note:
81-nt deletion within gene KMT2D.
Links:
dbSNP: rs1555196792
NCBI 1000 Genomes Browser:
rs1555196792
Molecular consequence:
  • NM_003482.4:c.2428_2508del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000112059Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Sep 14, 2012) 		germlineclinical testing

Citation Link,

SCV000581894GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 5, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000112059.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000581894.4

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

Description

The c.2428_2508del81 variant in the KMT2D gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2428_2508del81 variant causes an in-frame deletion of 27 amino acids from Threonine 810 to Glutamine 836, denoted p.Thr810_Gln836del. The c.2428_2508del81 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2428_2508del81 as a variant of uncertain significance.

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

Last Updated: Feb 28, 2024