rs10083915

Variant names:

• chr18-21120994-G-A
• rs10083915
• ENST00000833849.1:n.1048+8076G>A

Your query was ambiguous. Multiple possible variants found:

• chr18-21120994-G-A
• chr18-21120994-G-C

Variant summary

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

The ENST00000833849.1(ENSG00000308413):​n.1048+8076G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.804 in 152,046 control chromosomes in the GnomAD database, including 53,163 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 0.80 (53163 hom., cov: 32)
• Consequence: ENSG00000308413 ENST00000833849.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.601
• Publications: 6 publications found

Genes affected

ENSG00000308413 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.961 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000833849.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000308413	ENST00000833849.1		n.1048+8076G>A		intron	N/A
	ENSG00000308413	ENST00000833850.1		n.975+8076G>A		intron	N/A
	ENSG00000308413	ENST00000833851.1		n.731+8076G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.805 AC: 122276 AN: 151930 Hom.: 53174 Cov.: 32

Gnomad AFR AF: 0.443

Gnomad AMI AF: 0.986

Gnomad AMR AF: 0.811

Gnomad ASJ AF: 0.930

Gnomad EAS AF: 0.912

Gnomad SAS AF: 0.966

Gnomad FIN AF: 0.977

Gnomad MID AF: 0.883

Gnomad NFE AF: 0.967

Gnomad OTH AF: 0.836

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

GnomAD4 genome AF: 0.804 AC: 122295 AN: 152046 Hom.: 53163 Cov.: 32 AF XY: 0.808 AC XY: 60096 AN XY: 74358

African (AFR) AF: 0.442 AC: 18306 AN: 41400

American (AMR) AF: 0.810 AC: 12368 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.930 AC: 3228 AN: 3472

East Asian (EAS) AF: 0.912 AC: 4722 AN: 5180

South Asian (SAS) AF: 0.966 AC: 4662 AN: 4828

European-Finnish (FIN) AF: 0.977 AC: 10332 AN: 10574

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.967 AC: 65755 AN: 68010

Other (OTH) AF: 0.836 AC: 1764 AN: 2110

Alfa AF: 0.936 Hom.: 26953

Bravo AF: 0.774

Asia WGS AF: 0.895 AC: 3097 AN: 3460

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.28
DANN	Benign	0.40
PhyloP100		-0.60

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs10083915;

hg19: chr18-18700955;