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NM_002397.5(MEF2C):c.258+5G>C AND Intellectual disability, autosomal dominant 20

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 2, 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:
RCV001775320.1

Allele description [Variation Report for NM_002397.5(MEF2C):c.258+5G>C]

NM_002397.5(MEF2C):c.258+5G>C

Gene:
MEF2C:myocyte enhancer factor 2C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_002397.5(MEF2C):c.258+5G>C
HGVS:
  • NC_000005.10:g.88804593C>G
  • NG_023427.1:g.104513G>C
  • NM_001131005.2:c.258+5G>C
  • NM_001193347.1:c.258+5G>C
  • NM_001193348.1:c.258+5G>C
  • NM_001193349.3:c.258+5G>C
  • NM_001193350.2:c.258+5G>C
  • NM_001308002.3:c.258+5G>C
  • NM_001363581.2:c.258+5G>C
  • NM_001364329.2:c.258+5G>C
  • NM_001364330.2:c.258+5G>C
  • NM_001364331.2:c.258+5G>C
  • NM_001364332.2:c.258+5G>C
  • NM_001364333.2:c.258+5G>C
  • NM_001364334.2:c.258+5G>C
  • NM_001364335.2:c.258+5G>C
  • NM_001364336.2:c.258+5G>C
  • NM_001364337.2:c.258+5G>C
  • NM_001364338.2:c.258+5G>C
  • NM_001364339.2:c.258+5G>C
  • NM_001364340.2:c.258+5G>C
  • NM_001364341.2:c.258+5G>C
  • NM_001364342.2:c.258+5G>C
  • NM_001364343.2:c.258+5G>C
  • NM_001364344.2:c.258+5G>C
  • NM_001364345.2:c.258+5G>C
  • NM_001364346.2:c.258+5G>C
  • NM_001364347.2:c.258+5G>C
  • NM_001364348.2:c.258+5G>C
  • NM_001364349.2:c.258+5G>C
  • NM_001364350.2:c.258+5G>C
  • NM_001364352.2:c.258+5G>C
  • NM_001364354.2:c.258+5G>C
  • NM_001364355.2:c.258+5G>C
  • NM_002397.5:c.258+5G>CMANE SELECT
  • NC_000005.9:g.88100410C>G
  • NM_002397.4:c.258+5G>C
Links:
dbSNP: rs2153073717
NCBI 1000 Genomes Browser:
rs2153073717
Molecular consequence:
  • NM_001131005.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193347.1:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193348.1:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193349.3:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001193350.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001308002.3:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363581.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364329.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364330.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364331.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364332.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364333.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364334.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364335.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364336.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364337.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364338.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364339.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364340.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364341.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364342.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364343.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364344.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364345.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364346.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364347.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364348.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364349.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364350.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364352.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364354.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364355.2:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002397.5:c.258+5G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Intellectual disability, autosomal dominant 20 (NEDHSIL)
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE
Identifiers:
MONDO: MONDO:0013266; MedGen: C3150700; Orphanet: 228384; OMIM: 613443

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0020121073billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 2, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From 3billion, SCV002012107.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tools predict the variant to alter splicing and produce an abnormal transcript (RF:0.81; ADA:0.99, Splice AI: 0.89, PP3 ). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024