rs7788316

Positions:

• chr7-150316906-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001164458.2(ACTR3C):​c.-52+6563T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.295 in 151,940 control chromosomes in the GnomAD database, including 6,860 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.29 (6860 hom., cov: 32)
• Consequence: ACTR3C NM_001164458.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.74

Genes affected

ACTR3C (HGNC:37282): (actin related protein 3C) Predicted to enable ATP binding activity. Predicted to contribute to actin filament binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

LRRC61 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.403 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ACTR3C	NM_001164458.2	c.-52+6563T>A		intron_variant		ENST00000683684.1	NP_001157930.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ACTR3C	ENST00000683684.1	c.-52+6563T>A		intron_variant			NM_001164458.2	ENSP00000507618	P1
ACTR3C	ENST00000478393.5	c.105+6563T>A		intron_variant		1		ENSP00000417426
ACTR3C	ENST00000477367.1	c.-52+5960T>A		intron_variant		4		ENSP00000417997
ACTR3C	ENST00000477871.1	c.246+6563T>A		intron_variant		3		ENSP00000418635

Frequencies

GnomAD3 genomes AF: 0.295 AC: 44776 AN: 151822 Hom.: 6855 Cov.: 32

Gnomad AFR AF: 0.349

Gnomad AMI AF: 0.391

Gnomad AMR AF: 0.213

Gnomad ASJ AF: 0.324

Gnomad EAS AF: 0.418

Gnomad SAS AF: 0.277

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.301

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.274

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

GnomAD4 genome AF: 0.295 AC: 44819 AN: 151940 Hom.: 6860 Cov.: 32 AF XY: 0.296 AC XY: 22007 AN XY: 74294

Gnomad4 AFR AF: 0.349

Gnomad4 AMR AF: 0.213

Gnomad4 ASJ AF: 0.324

Gnomad4 EAS AF: 0.417

Gnomad4 SAS AF: 0.277

Gnomad4 FIN AF: 0.311

Gnomad4 NFE AF: 0.268

Gnomad4 OTH AF: 0.271

Alfa AF: 0.291 Hom.: 793

Bravo AF: 0.292

Asia WGS AF: 0.343 AC: 1194 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.21
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7788316; hg19: chr7-150013995;