rs10881985

Variant names:

• chr10-91867401-T-C
• rs10881985
• ENST00000786181.1:n.201+15627A>G

Your query was ambiguous. Multiple possible variants found:

• chr10-91867401-T-C
• chr10-91867401-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000786181.1(ENSG00000302365):​n.201+15627A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.327 in 151,718 control chromosomes in the GnomAD database, including 8,595 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 0.33 (8595 hom., cov: 31)
• Consequence: ENSG00000302365 ENST00000786181.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.49
• Publications: 5 publications found

Genes affected

ENSG00000302365 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.51 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000786181.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000302365	ENST00000786181.1		n.201+15627A>G		intron	N/A
	ENSG00000302365	ENST00000786182.1		n.243-14069A>G		intron	N/A
	ENSG00000302365	ENST00000786183.1		n.217-13513A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.327 AC: 49518 AN: 151600 Hom.: 8590 Cov.: 31

Gnomad AFR AF: 0.252

Gnomad AMI AF: 0.340

Gnomad AMR AF: 0.381

Gnomad ASJ AF: 0.386

Gnomad EAS AF: 0.500

Gnomad SAS AF: 0.529

Gnomad FIN AF: 0.465

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.309

Gnomad OTH AF: 0.283

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

GnomAD4 genome AF: 0.327 AC: 49537 AN: 151718 Hom.: 8595 Cov.: 31 AF XY: 0.339 AC XY: 25159 AN XY: 74154

African (AFR) AF: 0.251 AC: 10391 AN: 41340

American (AMR) AF: 0.382 AC: 5826 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.386 AC: 1338 AN: 3464

East Asian (EAS) AF: 0.500 AC: 2586 AN: 5172

South Asian (SAS) AF: 0.527 AC: 2532 AN: 4804

European-Finnish (FIN) AF: 0.465 AC: 4890 AN: 10524

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.309 AC: 20996 AN: 67856

Other (OTH) AF: 0.282 AC: 593 AN: 2104

Alfa AF: 0.302 Hom.: 11959

Bravo AF: 0.310

Asia WGS AF: 0.491 AC: 1706 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	6.6
DANN	Benign	0.85
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs10881985; hg19: chr10-93627158;