11-69295926-TG-CA

Variant names:

• chr11-69295926-TG-CA
• NM_001293291.2:c.476_477delTGinsCA
• MYEOV p.Val159Ala

Variant summary

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

The NM_001293291.2(MYEOV):​c.476_477delTGinsCA​(p.Val159Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. The variant is present in control chromosomes in GnomAd MNV project. The variant allele was found at a frequency of 0.00000398 in 1 alleles, including 0 homozygotes. 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.

• Frequency: GnomAD MNV: 𝑓 0.0000040 Genomes: not found (cov: 32)
• Consequence: MYEOV NM_001293291.2 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.53
• Publications: 0 publications found

Genes affected

MYEOV (HGNC:7563): (myeloma overexpressed)

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001293291.2. 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
	MYEOV	NM_001293291.2	MANE Select	c.476_477delTGinsCA	p.Val159Ala	missense	N/A	NP_001280220.1	Q96EZ4
	MYEOV	NM_138768.4		c.476_477delTGinsCA	p.Val159Ala	missense	N/A	NP_620123.2
	MYEOV	NM_001293294.2		c.302_303delTGinsCA	p.Val101Ala	missense	N/A	NP_001280223.1	F5H0B3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MYEOV	ENST00000441339.3	TSL:2 MANE Select	c.476_477delTGinsCA	p.Val159Ala	missense	N/A	ENSP00000412482.2	Q96EZ4
	MYEOV	ENST00000308946.3	TSL:1	c.476_477delTGinsCA	p.Val159Ala	missense	N/A	ENSP00000308330.3	Q96EZ4
	MYEOV	ENST00000535653.1	TSL:1	n.1107_1108delTGinsCA		non_coding_transcript_exon	Exon 2 of 2

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

GnomAD MNV AF: 0.00000398 AC: 1 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.5

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: chr11-69063393;