rs3043743

Variant names:

• chr12-116148609-CTATATATATA-C
• rs3043743
• NM_015335.5:c.311-37107_311-37098delTATATATATA

Your query was ambiguous. Multiple possible variants found:

• chr12-116148609-CTATATATATA-C
• chr12-116148609-CTATATATATA-CTA
• chr12-116148609-CTATATATATA-CTATA
• chr12-116148609-CTATATATATA-CTATATA
• chr12-116148609-CTATATATATA-CTATATATA
• chr12-116148609-CTATATATATA-CTATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATATATATATATATA
• chr12-116148609-CTATATATATA-CTATATATATATATATATATATATATATATATA

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

The NM_015335.5(MED13L):​c.311-37107_311-37098delTATATATATA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000153 in 183,326 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00010 (0 hom., cov: 0)
  • Exomes 𝑓: 0.00033 (0 hom.)
• Consequence: MED13L NM_015335.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.466
• Publications: 3 publications found

Genes affected

MED13L (HGNC:22962): (mediator complex subunit 13L) The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

MIR620 (HGNC:32876): (microRNA 620) microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BS2: High AC in GnomAd4 at 15 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MED13L	NM_015335.5	c.311-37107_311-37098delTATATATATA		intron_variant	Intron 2 of 30	ENST00000281928.9	NP_056150.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MED13L	ENST00000281928.9	c.311-37107_311-37098delTATATATATA		intron_variant	Intron 2 of 30	1	NM_015335.5	ENSP00000281928.3

Frequencies

GnomAD3 genomes AF: 0.000105 AC: 15 AN: 143470 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000256

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00173

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000917

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.000326 AC: 13 AN: 39838 Hom.: 0 AF XY: 0.000348 AC XY: 8 AN XY: 22994

African (AFR) AF: 0.00 AC: 0 AN: 92

American (AMR) AF: 0.00 AC: 0 AN: 1642

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 1806

East Asian (EAS) AF: 0.00 AC: 0 AN: 210

South Asian (SAS) AF: 0.00182 AC: 11 AN: 6042

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 15860

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 124

European-Non Finnish (NFE) AF: 0.000153 AC: 2 AN: 13060

Other (OTH) AF: 0.00 AC: 0 AN: 1002

GnomAD4 genome AF: 0.000105 AC: 15 AN: 143488 Hom.: 0 Cov.: 0 AF XY: 0.0000860 AC XY: 6 AN XY: 69730

African (AFR) AF: 0.0000256 AC: 1 AN: 39094

American (AMR) AF: 0.00 AC: 0 AN: 14290

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3364

East Asian (EAS) AF: 0.00 AC: 0 AN: 4976

South Asian (SAS) AF: 0.00174 AC: 8 AN: 4598

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 8626

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 280

European-Non Finnish (NFE) AF: 0.0000917 AC: 6 AN: 65406

Other (OTH) AF: 0.00 AC: 0 AN: 1968

Alfa AF: 0.00 Hom.: 156

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.47
Mutation Taster		=100/0	polymorphism

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs3043743; hg19: chr12-116586414;