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. Variant got 2 ACMG points: 2P and 0B. PM2

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. 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

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

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ACVR1C	NM_145259.3	c.943+232_943+242delAAAAAAAAAAA		intron_variant	Intron 5 of 8	ENST00000243349.13	NP_660302.2
ACVR1C	NM_001111031.2	c.793+232_793+242delAAAAAAAAAAA		intron_variant	Intron 5 of 8		NP_001104501.1
ACVR1C	NM_001111032.2	c.703+232_703+242delAAAAAAAAAAA		intron_variant	Intron 4 of 7		NP_001104502.1
ACVR1C	NM_001111033.2	c.472+232_472+242delAAAAAAAAAAA		intron_variant	Intron 3 of 6		NP_001104503.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ACVR1C	ENST00000243349.13	c.943+232_943+242delAAAAAAAAAAA		intron_variant	Intron 5 of 8	1	NM_145259.3	ENSP00000243349.7
ACVR1C	ENST00000409680.7	c.793+232_793+242delAAAAAAAAAAA		intron_variant	Intron 5 of 8	1		ENSP00000387168.3
ACVR1C	ENST00000335450.7	c.703+232_703+242delAAAAAAAAAAA		intron_variant	Intron 4 of 7	1		ENSP00000335178.7
ACVR1C	ENST00000348328.9	c.472+232_472+242delAAAAAAAAAAA		intron_variant	Intron 3 of 6	1		ENSP00000335139.6

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

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs765521635; hg19: chr2-158400714;