rs10999637

Positions:

• chr10-71019055-G-A

Variant summary

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

The ENST00000646051.1(ENSG00000285300):​n.259-7524G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.832 in 152,236 control chromosomes in the GnomAD database, including 52,879 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 0.83 (52879 hom., cov: 33)
• Consequence: ENST00000646051.1 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.08

Genes affected

(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 (NFE) allele frequency at 95% confidence interval = 0.859 is higher than 0.05.

Transcripts

RefSeq

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

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
	ENST00000646051.1	n.259-7524G>A		intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.832 AC: 126523 AN: 152118 Hom.: 52835 Cov.: 33

Gnomad AFR AF: 0.812

Gnomad AMI AF: 0.864

Gnomad AMR AF: 0.747

Gnomad ASJ AF: 0.901

Gnomad EAS AF: 0.743

Gnomad SAS AF: 0.799

Gnomad FIN AF: 0.846

Gnomad MID AF: 0.794

Gnomad NFE AF: 0.865

Gnomad OTH AF: 0.852

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

GnomAD4 genome AF: 0.832 AC: 126623 AN: 152236 Hom.: 52879 Cov.: 33 AF XY: 0.829 AC XY: 61678 AN XY: 74422

Gnomad4 AFR AF: 0.812

Gnomad4 AMR AF: 0.747

Gnomad4 ASJ AF: 0.901

Gnomad4 EAS AF: 0.743

Gnomad4 SAS AF: 0.799

Gnomad4 FIN AF: 0.846

Gnomad4 NFE AF: 0.865

Gnomad4 OTH AF: 0.852

Alfa AF: 0.833 Hom.: 8308

Bravo AF: 0.824

Asia WGS AF: 0.775 AC: 2695 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	2.1
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10999637; hg19: chr10-72778812;