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NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 19, 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:
RCV002440746.2

Allele description [Variation Report for NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)]

NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)

Gene:
EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)
HGVS:
  • NC_000009.12:g.137813065T>G
  • NG_011776.1:g.199074T>G
  • NM_001354263.2:c.2906T>G
  • NM_024757.5:c.2927T>GMANE SELECT
  • NP_001341192.1:p.Leu969Arg
  • NP_079033.4:p.Leu976Arg
  • NC_000009.11:g.140707517T>G
  • NM_024757.4:c.2927T>G
Protein change:
L969R
Links:
dbSNP: rs147956904
NCBI 1000 Genomes Browser:
rs147956904
Molecular consequence:
  • NM_001354263.2:c.2906T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024757.5:c.2927T>G - 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
SCV002748759Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 19, 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, SCV002748759.2

#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: Oct 20, 2024