NM_002397.5(MEF2C):c.773T>A (p.Leu258His) AND Intellectual disability, autosomal dominant 20

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 27, 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:: RCV001314325.9

Allele description [Variation Report for NM_002397.5(MEF2C):c.773T>A (p.Leu258His)]

NM_002397.5(MEF2C):c.773T>A (p.Leu258His)

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.773T>A (p.Leu258His)

HGVS:

NC_000005.10:g.88731766A>T
NG_023427.1:g.177340T>A
NM_001131005.2:c.767T>A
NM_001193347.1:c.827T>A
NM_001193348.1:c.629T>A
NM_001193349.3:c.629T>A
NM_001193350.2:c.773T>A
NM_001308002.3:c.773T>A
NM_001363581.2:c.773T>A
NM_001364329.2:c.773T>A
NM_001364330.2:c.773T>A
NM_001364331.2:c.773T>A
NM_001364332.2:c.629T>A
NM_001364333.2:c.773T>A
NM_001364334.2:c.773T>A
NM_001364335.2:c.773T>A
NM_001364336.2:c.773T>A
NM_001364337.2:c.773T>A
NM_001364338.2:c.827T>A
NM_001364339.2:c.773T>A
NM_001364340.2:c.773T>A
NM_001364341.2:c.773T>A
NM_001364342.2:c.773T>A
NM_001364343.2:c.767T>A
NM_001364344.2:c.629T>A
NM_001364345.2:c.773T>A
NM_001364346.2:c.773T>A
NM_001364347.2:c.773T>A
NM_001364348.2:c.773T>A
NM_001364349.2:c.773T>A
NM_001364350.2:c.773T>A
NM_001364352.2:c.767T>A
NM_001364353.2:c.395T>A
NM_001364354.2:c.629T>A
NM_001364355.2:c.629T>A
NM_001364356.2:c.395T>A
NM_001364357.2:c.347T>A
NM_002397.5:c.773T>AMANE SELECT
NP_001124477.1:p.Leu256His
NP_001180276.1:p.Leu276His
NP_001180277.1:p.Leu210His
NP_001180278.1:p.Leu210His
NP_001180279.1:p.Leu258His
NP_001294931.1:p.Leu258His
NP_001350510.1:p.Leu258His
NP_001351258.1:p.Leu258His
NP_001351259.1:p.Leu258His
NP_001351260.1:p.Leu258His
NP_001351261.1:p.Leu210His
NP_001351262.1:p.Leu258His
NP_001351263.1:p.Leu258His
NP_001351264.1:p.Leu258His
NP_001351265.1:p.Leu258His
NP_001351266.1:p.Leu258His
NP_001351267.1:p.Leu276His
NP_001351268.1:p.Leu258His
NP_001351269.1:p.Leu258His
NP_001351270.1:p.Leu258His
NP_001351271.1:p.Leu258His
NP_001351272.1:p.Leu256His
NP_001351273.1:p.Leu210His
NP_001351274.1:p.Leu258His
NP_001351275.1:p.Leu258His
NP_001351276.1:p.Leu258His
NP_001351277.1:p.Leu258His
NP_001351278.1:p.Leu258His
NP_001351279.1:p.Leu258His
NP_001351281.1:p.Leu256His
NP_001351282.1:p.Leu132His
NP_001351283.1:p.Leu210His
NP_001351284.1:p.Leu210His
NP_001351285.1:p.Leu132His
NP_001351286.1:p.Leu116His
NP_002388.2:p.Leu258His
NC_000005.9:g.88027583A>T

Protein change:

L116H

Links:

dbSNP: rs1268731100

NCBI 1000 Genomes Browser:

rs1268731100

Molecular consequence:

NM_001131005.2:c.767T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001193347.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001193348.1:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001193349.3:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001193350.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001308002.3:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363581.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364329.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364330.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364331.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364332.2:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364333.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364334.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364335.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364336.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364337.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364338.2:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364339.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364340.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364341.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364342.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364343.2:c.767T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364344.2:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364345.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364346.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364347.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364348.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364349.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364350.2:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364352.2:c.767T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364353.2:c.395T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364354.2:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364355.2:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364356.2:c.395T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001364357.2:c.347T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002397.5:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

ARHGAP12 [Prionailurus bengalensis]
ARHGAP12 [Prionailurus bengalensis]
Gene ID:122473218

Gene
CBTC649.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8932702 5', ...
CBTC649.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8932702 5', mRNA sequence
gi|126360581|gnl|dbEST|45046139|gb| 166.2|

Nucleotide
CBTC649.rev NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8932702 3', ...
CBTC649.rev NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8932702 3', mRNA sequence
gi|126268890|gnl|dbEST|45042717|gb| 165.1|

Nucleotide
CBTC7386.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8939665 5',...
CBTC7386.fwd NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8939665 5', mRNA sequence
gi|126270247|gnl|dbEST|45044074|gb| 522.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001504853	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 27, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001504853

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 27, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001504853.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine