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NM_024757.5(EHMT1):c.1982C>T (p.Ser661Leu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 20, 2023
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:
RCV004042841.1

Allele description [Variation Report for NM_024757.5(EHMT1):c.1982C>T (p.Ser661Leu)]

NM_024757.5(EHMT1):c.1982C>T (p.Ser661Leu)

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.1982C>T (p.Ser661Leu)
HGVS:
  • NC_000009.12:g.137776808C>T
  • NG_011776.1:g.162817C>T
  • NM_001145527.2:c.1982C>T
  • NM_001354259.2:c.1889C>T
  • NM_001354263.2:c.1961C>T
  • NM_024757.4:c.1982C>T
  • NM_024757.5:c.1982C>TMANE SELECT
  • NP_001138999.1:p.Ser661Leu
  • NP_001341188.1:p.Ser630Leu
  • NP_001341192.1:p.Ser654Leu
  • NP_079033.4:p.Ser661Leu
  • NC_000009.11:g.140671260C>T
Protein change:
S630L
Links:
dbSNP: rs576113368
NCBI 1000 Genomes Browser:
rs576113368
Molecular consequence:
  • NM_001145527.2:c.1982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354259.2:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354263.2:c.1961C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024757.5:c.1982C>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
SCV004862356Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 20, 2023) 		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, SCV004862356.1

#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