NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) AND Kabuki syndrome 1

Clinical significance:Benign/Likely benign (Last evaluated: Aug 27, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000146166.4

Allele description [Variation Report for NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)]

NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)

Gene:
KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
HGVS:
  • NC_000012.12:g.49031660G>C
  • NG_027827.1:g.28665C>G
  • NM_003482.3:c.13045C>G
  • NM_003482.4:c.13045C>GMANE SELECT
  • NP_003473.3:p.Pro4349Ala
  • NP_003473.3:p.Pro4349Ala
  • NC_000012.11:g.49425443G>C
Protein change:
P4349A
Links:
dbSNP: rs181733689
NCBI 1000 Genomes Browser:
rs181733689
Molecular consequence:
  • NM_003482.3:c.13045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003482.4:c.13045C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Kabuki syndrome 1 (KABUK1)
Identifiers:
MONDO: MONDO:0007843; MedGen: CN030661; Orphanet: 2322; OMIM: 147920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000781661Center for Human Genetics, Inc,Center for Human Genetics, Inccriteria provided, single submitter
Likely benign
(Nov 1, 2016)
germlineclinical testing

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

SCV001473846ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 27, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot 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 Center for Human Genetics, Inc,Center for Human Genetics, Inc, SCV000781661.1

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473846.1

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

Last Updated: Nov 20, 2021

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