NM_004268.5(MED17):c.1927A>G (p.Met643Val) AND Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 14, 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:: RCV001278683.3

Allele description [Variation Report for NM_004268.5(MED17):c.1927A>G (p.Met643Val)]

NM_004268.5(MED17):c.1927A>G (p.Met643Val)

Gene:

MED17:mediator complex subunit 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_004268.5(MED17):c.1927A>G (p.Met643Val)

HGVS:

NC_000011.10:g.93812035A>G
NG_028028.1:g.32797A>G
NM_004268.5:c.1927A>GMANE SELECT
NP_004259.3:p.Met643Val
NC_000011.9:g.93545201A>G
NM_004268.4:c.1927A>G

Protein change:

M643V

Links:

dbSNP: rs761959231

NCBI 1000 Genomes Browser:

rs761959231

Molecular consequence:

NM_004268.5:c.1927A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Synonyms:: Microcephaly, postnatal progressive, with seizures and brain atrophy
Identifiers:: MONDO: MONDO:0013351; MedGen: C3150921; Orphanet: 402364; OMIM: 613668

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001465711	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 17, 2020)	germline	clinical testing
SCV002059533	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 14, 2021)	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

SCV001465711

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 17, 2020)

germline

clinical testing

SCV002059533

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 14, 2021)

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
not provided	germline	unknown	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 Natera, Inc., SCV001465711.1

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

#	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

From Centogene AG - the Rare Disease Company, SCV002059533.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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