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

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 26, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000094165.10
Variation ID:
94165
Description:
single nucleotide variant
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NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)

Allele ID
100065
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.12
Genomic location
12: 49031660 (GRCh38) GRCh38 UCSC
12: 49425443 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.49425443G>C
NM_003482.3:c.13045C>G NP_003473.3:p.Pro4349Ala missense
NC_000012.12:g.49031660G>C
... more HGVS
Protein change
P4349A
Other names
-
Canonical SPDI
NC_000012.12:49031659:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00342
The Genome Aggregation Database (gnomAD) 0.00433
Trans-Omics for Precision Medicine (TOPMed) 0.00493
1000 Genomes Project 0.00599
Links
ClinGen: CA147669
dbSNP: rs181733689
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Sep 26, 2018 RCV000080128.7
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 27, 2020 RCV000146166.4
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 9, 2020 RCV000514859.5
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV001084623.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KMT2D Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1799 1813

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610699.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Kabuki syndrome 1
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781661.1
Submitted: (Dec 20, 2017)
Evidence details
Benign
(Sep 19, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112023.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Sep 26, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000193391.2
Submitted: (Mar 06, 2020)
Evidence details
Benign
(Aug 27, 2020)
criteria provided, single submitter
Method: clinical testing
Kabuki syndrome 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473846.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Kabuki syndrome
Allele origin: germline
Invitae
Accession: SCV001013072.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 09, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001935099.1
Submitted: (Sep 26, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 30459467)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085617.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=KMT2D - - - -

Text-mined citations for rs181733689...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021