rs11975886

Positions:

• chr7-150313273-G-A
• chr7-150313273-G-C

Variant summary

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

The NM_001164458.2(ACTR3C):​c.-52+10196C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.276 in 152,054 control chromosomes in the GnomAD database, including 5,943 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 0.28 (5943 hom., cov: 32)
• Consequence: ACTR3C NM_001164458.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.227

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=-0.75).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.417 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ACTR3C	NM_001164458.2	c.-52+10196C>T		intron_variant		ENST00000683684.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ACTR3C	ENST00000683684.1	c.-52+10196C>T		intron_variant			NM_001164458.2	P1
ACTR3C	ENST00000478393.5	c.105+10196C>T		intron_variant		1
ACTR3C	ENST00000477367.1	c.-52+9593C>T		intron_variant		4
ACTR3C	ENST00000477871.1	c.246+10196C>T		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.276 AC: 41881 AN: 151936 Hom.: 5952 Cov.: 32

Gnomad AFR AF: 0.272

Gnomad AMI AF: 0.390

Gnomad AMR AF: 0.207

Gnomad ASJ AF: 0.324

Gnomad EAS AF: 0.433

Gnomad SAS AF: 0.289

Gnomad FIN AF: 0.312

Gnomad MID AF: 0.294

Gnomad NFE AF: 0.271

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.276 AC: 41892 AN: 152054 Hom.: 5943 Cov.: 32 AF XY: 0.278 AC XY: 20697 AN XY: 74336

Gnomad4 AFR AF: 0.272

Gnomad4 AMR AF: 0.207

Gnomad4 ASJ AF: 0.324

Gnomad4 EAS AF: 0.432

Gnomad4 SAS AF: 0.290

Gnomad4 FIN AF: 0.312

Gnomad4 NFE AF: 0.271

Gnomad4 OTH AF: 0.261

Alfa AF: 0.282 Hom.: 832

Bravo AF: 0.269

Asia WGS AF: 0.344 AC: 1197 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	3.7
DANN	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11975886; hg19: chr7-150010362;