2-196989642-CCT-TCG

Variant names:

• chr2-196989642-CCT-TCG
• NM_001195144.2:c.2929_2931delAGGinsCGA
• ANKRD44 p.978

Variant summary

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

The NM_001195144.2(ANKRD44):​c.2929_2931delAGGinsCGA​(p.978) variant causes a synonymous change. 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.

• Frequency: Genomes: not found (cov: 32)
• Consequence: ANKRD44 NM_001195144.2 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.88
• Publications: 0 publications found

Genes affected

ANKRD44 (HGNC:25259): (ankyrin repeat domain 44)

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001195144.2. 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
	ANKRD44	NM_001195144.2	MANE Select	c.2929_2931delAGGinsCGA	p.978	synonymous	N/A	NP_001182073.1	Q8N8A2-1
	ANKRD44	NM_001367495.1		c.*1036_*1038delAGGinsCGA		3_prime_UTR	Exon 28 of 28	NP_001354424.1
	ANKRD44	NM_001367497.1		c.*1036_*1038delAGGinsCGA		3_prime_UTR	Exon 28 of 28	NP_001354426.1	A0A2R8Y7Y4

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANKRD44	ENST00000282272.15	TSL:5 MANE Select	c.2929_2931delAGGinsCGA	p.978	synonymous	N/A	ENSP00000282272.9	Q8N8A2-1
	ANKRD44	ENST00000424317.5	TSL:1	c.2368+3939_2368+3941delAGGinsCGA		intron	N/A	ENSP00000403415.1	H7C209
	ANKRD44	ENST00000871701.1		c.2983_2985delAGGinsCGA	p.996	synonymous	N/A	ENSP00000541760.1

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		3.9

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: chr2-197854366;