U.S. flag

An official website of the United States government

NM_001393769.1(MED12L):c.805CTT[1] (p.Leu270del) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2022
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:
RCV002655551.2

Allele description [Variation Report for NM_001393769.1(MED12L):c.805CTT[1] (p.Leu270del)]

NM_001393769.1(MED12L):c.805CTT[1] (p.Leu270del)

Gene:
MED12L:mediator complex subunit 12L [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3q25.1
Genomic location:
Preferred name:
NM_001393769.1(MED12L):c.805CTT[1] (p.Leu270del)
HGVS:
  • NC_000003.12:g.151158767CTT[1]
  • NG_021244.1:g.76879CTT[1]
  • NG_021244.2:g.78105CTT[1]
  • NM_001393769.1:c.805CTT[1]MANE SELECT
  • NM_053002.6:c.805CTT[1]
  • NP_001380698.1:p.Leu270del
  • NP_443728.3:p.Leu270del
  • NC_000003.11:g.150876554CTT[1]
  • NM_053002.4:c.808_810delCTT
Protein change:
L270del
Molecular consequence:
  • NM_001393769.1:c.805CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_053002.6:c.805CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV003534422Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 24, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003534422.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.808_810delCTT (p.L270del) alteration is located in exon 6 (coding exon 6) of the MED12L gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.808 and c.810, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024