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NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 11, 2013
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:
RCV000179089.4

Allele description [Variation Report for NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)]

NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)

Gene:
KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)
HGVS:
  • NC_000012.12:g.49022606_49022622delinsG
  • NG_027827.1:g.37703_37719delinsC
  • NM_003482.4:c.16306_16322delinsCMANE SELECT
  • NP_003473.3:p.Ala5436fs
  • NC_000012.11:g.49416389_49416405delinsG
Protein change:
A5436fs
Links:
dbSNP: rs398123735
NCBI 1000 Genomes Browser:
rs398123735
Molecular consequence:
  • NM_003482.4:c.16306_16322delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000231283Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Sep 11, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000231283.5

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

Last Updated: Apr 1, 2023