rs630923

Positions:

• chr11-118883644-C-A

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The variant allele was found at a frequency of 0.136 in 454,366 control chromosomes in the GnomAD database, including 5,095 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

• Frequency:
  • Genomes: 𝑓 0.13 (1715 hom., cov: 31)
  • Exomes 𝑓: 0.14 (3380 hom.)
• Consequence: intergenic_region
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: -0.522

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BP6: Variant 11-118883644-C-A is Benign according to our data. Variant chr11-118883644-C-A is described in ClinVar as [Benign]. Clinvar id is 1259198.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.22 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.118883644C>A		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.132 AC: 20064 AN: 151904 Hom.: 1708 Cov.: 31

Gnomad AFR AF: 0.0322

Gnomad AMI AF: 0.263

Gnomad AMR AF: 0.225

Gnomad ASJ AF: 0.142

Gnomad EAS AF: 0.0599

Gnomad SAS AF: 0.105

Gnomad FIN AF: 0.243

Gnomad MID AF: 0.136

Gnomad NFE AF: 0.160

Gnomad OTH AF: 0.138

GnomAD4 exome AF: 0.139 AC: 41913 AN: 302344 Hom.: 3380 AF XY: 0.137 AC XY: 21692 AN XY: 157800

Gnomad4 AFR exome AF: 0.0304

Gnomad4 AMR exome AF: 0.210

Gnomad4 ASJ exome AF: 0.129

Gnomad4 EAS exome AF: 0.0452

Gnomad4 SAS exome AF: 0.0997

Gnomad4 FIN exome AF: 0.218

Gnomad4 NFE exome AF: 0.150

Gnomad4 OTH exome AF: 0.143

GnomAD4 genome AF: 0.132 AC: 20078 AN: 152022 Hom.: 1715 Cov.: 31 AF XY: 0.137 AC XY: 10146 AN XY: 74288

Gnomad4 AFR AF: 0.0321

Gnomad4 AMR AF: 0.226

Gnomad4 ASJ AF: 0.142

Gnomad4 EAS AF: 0.0605

Gnomad4 SAS AF: 0.105

Gnomad4 FIN AF: 0.243

Gnomad4 NFE AF: 0.160

Gnomad4 OTH AF: 0.136

Alfa AF: 0.151 Hom.: 2631

Bravo AF: 0.125

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

Benign, criteria provided, single submitter	clinical testing	GeneDx	Feb 24, 2021	This variant is associated with the following publications: (PMID: 27909439) -
Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	5.3
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs630923; hg19: chr11-118754353;