rs206503

Positions:

• chr18-10424832-A-G

Variant summary

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

The XR_935142.4(LOC105371988):​n.1633A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.685 in 152,084 control chromosomes in the GnomAD database, including 36,506 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 0.68 (36506 hom., cov: 32)
• Consequence: LOC105371988 XR_935142.4 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.37

Genes affected

LOC105371988 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.833 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC105371988	XR_935142.4	n.1633A>G		non_coding_transcript_exon_variant	3/3

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.685 AC: 104054 AN: 151966 Hom.: 36487 Cov.: 32

Gnomad AFR AF: 0.534

Gnomad AMI AF: 0.815

Gnomad AMR AF: 0.778

Gnomad ASJ AF: 0.629

Gnomad EAS AF: 0.854

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.721

Gnomad OTH AF: 0.670

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

GnomAD4 genome AF: 0.685 AC: 104125 AN: 152084 Hom.: 36506 Cov.: 32 AF XY: 0.694 AC XY: 51581 AN XY: 74350

Gnomad4 AFR AF: 0.534

Gnomad4 AMR AF: 0.779

Gnomad4 ASJ AF: 0.629

Gnomad4 EAS AF: 0.854

Gnomad4 SAS AF: 0.676

Gnomad4 FIN AF: 0.839

Gnomad4 NFE AF: 0.721

Gnomad4 OTH AF: 0.672

Alfa AF: 0.709 Hom.: 55046

Bravo AF: 0.677

Asia WGS AF: 0.755 AC: 2628 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.011
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs206503; hg19: chr18-10424829;