rs765521635

Variant names:

• chr2-157544202-ATTTTTTTTTTT-A
• rs765521635
• NM_145259.3:c.943+232_943+242delAAAAAAAAAAA

Your query was ambiguous. Multiple possible variants found:

• chr2-157544202-ATTTTTTTTTTT-A
• chr2-157544202-ATTTTTTTTTTT-ATTT
• chr2-157544202-ATTTTTTTTTTT-ATTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTTTTTTTT
• chr2-157544202-ATTTTTTTTTTT-ATTTTTTTTTTTTTTT

Variant summary

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

The NM_145259.3(ACVR1C):​c.943+232_943+242delAAAAAAAAAAA variant causes a intron change involving the alteration of a non-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 DEL_BIG, 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: 25)
• Consequence: ACVR1C NM_145259.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.984
• Publications: 0 publications found

Genes affected

ACVR1C (HGNC:18123): (activin A receptor type 1C) ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_145259.3. 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
	ACVR1C	NM_145259.3	MANE Select	c.943+232_943+242delAAAAAAAAAAA		intron	N/A	NP_660302.2	Q8NER5-1
	ACVR1C	NM_001111031.2		c.793+232_793+242delAAAAAAAAAAA		intron	N/A	NP_001104501.1	Q8NER5-4
	ACVR1C	NM_001111032.2		c.703+232_703+242delAAAAAAAAAAA		intron	N/A	NP_001104502.1	Q8NER5-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ACVR1C	ENST00000243349.13	TSL:1 MANE Select	c.943+232_943+242delAAAAAAAAAAA		intron	N/A	ENSP00000243349.7	Q8NER5-1
	ACVR1C	ENST00000409680.7	TSL:1	c.793+232_793+242delAAAAAAAAAAA		intron	N/A	ENSP00000387168.3	Q8NER5-4
	ACVR1C	ENST00000335450.7	TSL:1	c.703+232_703+242delAAAAAAAAAAA		intron	N/A	ENSP00000335178.7	Q8NER5-3

Frequencies

GnomAD3 genomes Cov.: 25

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

GnomAD4 genome Cov.: 25

Alfa AF: 0.00 Hom.: 2

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.98

Splicing

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

Other links and lift over

dbSNP: rs765521635; hg19: chr2-158400714;