NM_005121.3(MED13):c.4852G>C (p.Asp1618His) AND Intellectual developmental disorder 61

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 11, 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:: RCV003447772.1

Allele description [Variation Report for NM_005121.3(MED13):c.4852G>C (p.Asp1618His)]

NM_005121.3(MED13):c.4852G>C (p.Asp1618His)

Gene:

MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_005121.3(MED13):c.4852G>C (p.Asp1618His)

HGVS:

NC_000017.11:g.61962964C>G
NG_046948.1:g.107348G>C
NM_005121.3:c.4852G>CMANE SELECT
NP_005112.2:p.Asp1618His
NC_000017.10:g.60040325C>G

Protein change:

D1618H

Molecular consequence:

NM_005121.3:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual developmental disorder 61
Synonyms:: MENTAL RETARDATION, AUTOSOMAL DOMINANT 61; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61
Identifiers:: MONDO: MONDO:0032485; MedGen: C5231400; OMIM: 618009

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004175512	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 11, 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

SCV004175512

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 11, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetics and Molecular Pathology, SA Pathology, SCV004175512.1

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

Description

The MED13 c.4852G>C variant is classified as VUS (PP3) The MED13 c.4852G>C variant is a single nucleotide change in exon 21/30 of the MED13 gene, which is predicted to change the amino acid aspartic acid at position 1618 in the protein to histidine. Computational predictions support a deleterious effect on the gene or gene product (PP3). The variant has been reported in dbSNP (rs200976941). It has not been reported in ClinVar or HGMD.

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

Last Updated: Dec 17, 2023

ClinVar

Relating variation to medicine