NM_016045.3:c.272_273delTGinsAA

Variant names:

• chr20-59037209-CA-TT
• NM_016045.3:c.272_273delTGinsAA
• PRELID3B p.Met91Lys

Variant summary

Our verdict is Uncertain significance. The variant received 1 ACMG points: 1P and 0B. PP3

The NM_016045.3(PRELID3B):​c.272_273delTGinsAA​(p.Met91Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.

• Frequency: Genomes: not found (cov: 33)
• Consequence: PRELID3B NM_016045.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 8.55
• Publications: 0 publications found

Genes affected

PRELID3B (HGNC:15892): (PRELI domain containing 3B) Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]

SLMO2-ATP5E (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 1 ACMG points.

• PP3: No computational evidence supports a deleterious effect, but strongly conserved according to phyloP

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_016045.3. 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
	PRELID3B	NM_016045.3	MANE Select	c.272_273delTGinsAA	p.Met91Lys	missense	N/A	NP_057129.2	Q9Y3B1-1
	PRELID3B	NM_001256403.2		c.202-450_202-449delTGinsAA		intron	N/A	NP_001243332.1	Q9Y3B1-2
	SLMO2-ATP5E	NR_037929.1		n.388_389delTGinsAA		non_coding_transcript_exon	Exon 3 of 8

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PRELID3B	ENST00000355937.9	TSL:1 MANE Select	c.272_273delTGinsAA	p.Met91Lys	missense	N/A	ENSP00000348206.4	Q9Y3B1-1
	PRELID3B	ENST00000852164.1		c.272_273delTGinsAA	p.Met91Lys	missense	N/A	ENSP00000522223.1
	PRELID3B	ENST00000371033.9	TSL:2	c.202-450_202-449delTGinsAA		intron	N/A	ENSP00000360072.5	Q9Y3B1-2

Frequencies

GnomAD3 genomes Cov.: 33

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		8.6

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr20-57612264;