NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2016
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:
RCV000392937.1

Allele description [Variation Report for NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)]

NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)

Gene:
KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
HGVS:
  • NC_000011.10:g.118476949C>T
  • NG_027813.1:g.45460C>T
  • NM_001197104.2:c.3301C>TMANE SELECT
  • NM_005933.4:c.3301C>T
  • NP_001184033.1:p.Arg1101Ter
  • NP_001184033.1:p.Arg1101Ter
  • NP_005924.2:p.Arg1101Ter
  • LRG_613t1:c.3301C>T
  • LRG_613:g.45460C>T
  • LRG_613p1:p.Arg1101Ter
  • NC_000011.9:g.118347664C>T
  • NM_001197104.1:c.3301C>T
Protein change:
R1101*
Links:
dbSNP: rs886041856
NCBI 1000 Genomes Browser:
rs886041856
Molecular consequence:
  • NM_001197104.2:c.3301C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005933.4:c.3301C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330636GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 5, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000330636.6

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

Description

The R1101X pathogenic variant in the KMT2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1101X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1101X as a pathogenic variant.

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

Last Updated: Mar 16, 2024