4-17633933-CAAAAT-CAAAATAAAAT

Variant names:

• chr4-17633933-C-CAAAAT
• rs16343
• NM_025205.5:c.*10139_*10143dupATAAA

Variant summary

Our verdict is Uncertain significance. The variant received 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
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.254
• Publications: 8 publications found

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]

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

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MED28	NM_025205.5	c.*10139_*10143dupATAAA		3_prime_UTR_variant	Exon 4 of 4	ENST00000237380.12	NP_079481.2
FAM184B	NM_015688.2	c.2890-50_2890-46dupATTTT		intron_variant	Intron 16 of 17	ENST00000265018.4	NP_056503.1
FAM184B	XM_047450066.1	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	c.*10139_*10143dupATAAA		3_prime_UTR_variant	Exon 4 of 4	1	NM_025205.5	ENSP00000237380.6
FAM184B	ENST00000265018.4	c.2890-50_2890-46dupATTTT		intron_variant	Intron 16 of 17	1	NM_015688.2	ENSP00000265018.3

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.25

Splicing

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

Other links and lift over

dbSNP: rs16343; hg19: chr4-17635556;