U.S. flag

An official website of the United States government

NM_001393769.1(MED12L):c.667G>T (p.Val223Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 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:
RCV001864463.4

Allele description [Variation Report for NM_001393769.1(MED12L):c.667G>T (p.Val223Leu)]

NM_001393769.1(MED12L):c.667G>T (p.Val223Leu)

Gene:
MED12L:mediator complex subunit 12L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
NM_001393769.1(MED12L):c.667G>T (p.Val223Leu)
HGVS:
  • NC_000003.12:g.151156271G>T
  • NG_021244.1:g.74383G>T
  • NM_001393769.1:c.667G>TMANE SELECT
  • NM_053002.6:c.667G>T
  • NP_001380698.1:p.Val223Leu
  • NP_443728.3:p.Val223Leu
  • NC_000003.11:g.150874058G>T
Protein change:
V223L
Links:
dbSNP: rs2148936586
NCBI 1000 Genomes Browser:
rs2148936586
Molecular consequence:
  • NM_001393769.1:c.667G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_053002.6:c.667G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002129859Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 31, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV002129859.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MED12L-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 223 of the MED12L protein (p.Val223Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024