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NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 5, 2017)
Last evaluated:
Aug 2, 2016
Accession:
VCV000435661.2
Variation ID:
435661
Description:
single nucleotide variant
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NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)

Allele ID
429174
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.3
Genomic location
11: 118504435 (GRCh38) GRCh38 UCSC
11: 118375150 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001197104.1:c.8543T>C NP_001184033.1:p.Leu2848Pro missense
LRG_613:g.72946T>C
LRG_613t1:c.8543T>C LRG_613p1:p.Leu2848Pro
... more HGVS
Protein change
L2848P, L2845P
Other names
-
Canonical SPDI
NC_000011.10:118504434:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382814608
dbSNP: rs1555047266
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 2, 2016 RCV000501129.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KMT2A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
581 660

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 02, 2016)
criteria provided, single submitter
Method: clinical testing
Wiedemann-Steiner syndrome
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000595442.1
Submitted: (Jul 05, 2017)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555047266...

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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 Oct 30, 2021