Genetic Variant MED28:c.*10139_*10143dupATAAA (chr4-17633933-C-CAAAAT) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_025205.5(MED28):c.*10139_*10143dupATAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)

Consequence

MED28
NM_025205.5 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.254

Variant links:

Genes affected

MED28 (HGNC:24628): (mediator complex subunit 28) Predicted to enable actin binding activity. Predicted to act upstream of or within negative regulation of smooth muscle cell differentiation and stem cell population maintenance. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MED28 links:

FAM184B (HGNC:29235): (family with sequence similarity 184 member B)

FAM184B links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	Exon rank	MANE	Protein	UniProt
MED28	NM_025205.5 link	c.10139_10143dupATAAA	3_prime_UTR_variant	Exon 4 of 4	ENST00000237380.12	NP_079481.2	Q9H204
FAM184B	NM_015688.2 link	c.2890-50_2890-46dupATTTT	intron_variant	Intron 16 of 17	ENST00000265018.4	NP_056503.1	Q9ULE4
FAM184B	XM_047450066.1 link	c.2890-50_2890-46dupATTTT	intron_variant	Intron 16 of 16		XP_047306022.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MED28	ENST00000237380.12 link	c.10139_10143dupATAAA		3_prime_UTR_variant	Exon 4 of 4	1	NM_025205.5	ENSP00000237380.6		Q9H204
FAM184B	ENST00000265018.4 link	c.2890-50_2890-46dupATTTT		intron_variant	Intron 16 of 17	1	NM_015688.2	ENSP00000265018.3		Q9ULE4

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

Cov.:

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

4-17633933-CAAAAT-CAAAATAAAAT

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over