NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Nov 21, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000513704.6

Allele description [Variation Report for NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)]

NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)

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.10993C>G (p.Pro3665Ala)
HGVS:
  • NC_000012.12:g.49033712G>C
  • NG_027827.1:g.26613C>G
  • NM_003482.4:c.10993C>GMANE SELECT
  • NP_003473.3:p.Pro3665Ala
  • NP_003473.3:p.Pro3665Ala
  • NC_000012.11:g.49427495G>C
  • NM_003482.3:c.10993C>G
Protein change:
P3665A
Links:
dbSNP: rs112170602
NCBI 1000 Genomes Browser:
rs112170602
Molecular consequence:
  • NM_003482.4:c.10993C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000610026Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely benign
(May 18, 2017)
germlineclinical testing

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

SCV000616754GeneDxcriteria provided, single submitter
Benign
(Nov 21, 2019)
germlineclinical testing

Citation Link,

SCV001144512Athena Diagnostics Inccriteria provided, single submitter
Benign
(Sep 25, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Genome-wide analysis of pediatric-type follicular lymphoma reveals low genetic complexity and recurrent alterations of TNFRSF14 gene.

Schmidt J, Gong S, Marafioti T, Mankel B, Gonzalez-Farre B, Balagué O, Mozos A, Cabeçadas J, van der Walt J, Hoehn D, Rosenwald A, Ott G, Dojcinov S, Egan C, Nadeu F, Ramis-Zaldívar JE, Clot G, Bárcena C, Pérez-Alonso V, Endris V, Penzel R, Lome-Maldonado C, et al.

Blood. 2016 Aug 25;128(8):1101-11. doi: 10.1182/blood-2016-03-703819. Epub 2016 Jun 2.

PubMed [citation]
PMID:
27257180
PMCID:
PMC5000845
See all PubMed Citations (3)

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000610026.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.001386not providednot provided

From GeneDx, SCV000616754.2

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

Description

This variant is associated with the following publications: (PMID: 24728327, 30459467)

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

From Athena Diagnostics Inc, SCV001144512.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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