rs709592

Variant names:

• chr17-40019300-C-A
• rs709592
• NM_014815.4:c.*229G>T

Your query was ambiguous. Multiple possible variants found:

• chr17-40019300-C-A
• chr17-40019300-C-G
• chr17-40019300-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001330211.2(MED24):​c.*229G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: MED24 NM_001330211.2 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.512
• Publications: 38 publications found

Genes affected

MED24 (HGNC:22963): (mediator complex subunit 24) This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001330211.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MED24	NM_014815.4	MANE Select	c.*229G>T		3_prime_UTR	Exon 26 of 26	NP_055630.2
	MED24	NM_001330211.2		c.*229G>T		3_prime_UTR	Exon 27 of 27	NP_001317140.1
	MED24	NM_001079518.2		c.*229G>T		3_prime_UTR	Exon 25 of 25	NP_001072986.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MED24	ENST00000394128.7	TSL:1 MANE Select	c.*229G>T		3_prime_UTR	Exon 26 of 26	ENSP00000377686.2
	MED24	ENST00000394126.5	TSL:1	c.*229G>T		3_prime_UTR	Exon 25 of 25	ENSP00000377684.1
	MED24	ENST00000887917.1		c.*229G>T		3_prime_UTR	Exon 27 of 27	ENSP00000557976.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 399264 Hom.: 0 Cov.: 3 AF XY: 0.00 AC XY: 0 AN XY: 209686

African (AFR) AF: 0.00 AC: 0 AN: 10856

American (AMR) AF: 0.00 AC: 0 AN: 14274

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 12440

East Asian (EAS) AF: 0.00 AC: 0 AN: 27076

South Asian (SAS) AF: 0.00 AC: 0 AN: 40982

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 26868

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 1798

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 241626

Other (OTH) AF: 0.00 AC: 0 AN: 23344

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	6.6
DANN	Benign	0.73
PhyloP100		0.51
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs709592; hg19: chr17-38175553;