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NM_014727.3(KMT2B):c.398C>T (p.Ala133Val) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 31, 2021
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:
RCV002539307.2

Allele description [Variation Report for NM_014727.3(KMT2B):c.398C>T (p.Ala133Val)]

NM_014727.3(KMT2B):c.398C>T (p.Ala133Val)

Gene:
KMT2B:lysine methyltransferase 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_014727.3(KMT2B):c.398C>T (p.Ala133Val)
HGVS:
  • NC_000019.10:g.35719503C>T
  • NG_052906.1:g.6485C>T
  • NM_014727.3:c.398C>TMANE SELECT
  • NP_055542.1:p.Ala133Val
  • NC_000019.9:g.36210405C>T
  • NC_000019.9:g.36210405C>T
  • NM_014727.1:c.398C>T
  • NM_014727.2:c.398C>T
Protein change:
A133V
Links:
dbSNP: rs202048028
NCBI 1000 Genomes Browser:
rs202048028
Molecular consequence:
  • NM_014727.3:c.398C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003592810Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 31, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003592810.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024