rs1983380

Variant names:

• chr3-118485983-T-A
• rs1983380
• ENST00000482142.5:n.232+10640A>T

Your query was ambiguous. Multiple possible variants found:

• chr3-118485983-T-A
• chr3-118485983-T-C
• chr3-118485983-T-G

Variant summary

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

The ENST00000833975.1(ENSG00000243276):​n.448+10640A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.46 in 151,862 control chromosomes in the GnomAD database, including 16,799 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 0.46 (16799 hom., cov: 31)
• Consequence: ENSG00000243276 ENST00000833975.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.425
• Publications: 3 publications found

Genes affected

ENSG00000243276 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.657 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000833975.1. 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
	ENSG00000243276	ENST00000482142.5	TSL:5	n.232+10640A>T		intron	N/A
	ENSG00000243276	ENST00000833975.1		n.448+10640A>T		intron	N/A
	ENSG00000243276	ENST00000833976.1		n.349+10640A>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.461 AC: 69882 AN: 151744 Hom.: 16794 Cov.: 31

Gnomad AFR AF: 0.323

Gnomad AMI AF: 0.525

Gnomad AMR AF: 0.470

Gnomad ASJ AF: 0.569

Gnomad EAS AF: 0.628

Gnomad SAS AF: 0.677

Gnomad FIN AF: 0.461

Gnomad MID AF: 0.640

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.510

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

GnomAD4 genome AF: 0.460 AC: 69915 AN: 151862 Hom.: 16799 Cov.: 31 AF XY: 0.466 AC XY: 34583 AN XY: 74208

African (AFR) AF: 0.323 AC: 13375 AN: 41438

American (AMR) AF: 0.470 AC: 7154 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.569 AC: 1976 AN: 3472

East Asian (EAS) AF: 0.628 AC: 3224 AN: 5134

South Asian (SAS) AF: 0.677 AC: 3266 AN: 4826

European-Finnish (FIN) AF: 0.461 AC: 4859 AN: 10542

Middle Eastern (MID) AF: 0.637 AC: 186 AN: 292

European-Non Finnish (NFE) AF: 0.505 AC: 34311 AN: 67906

Other (OTH) AF: 0.513 AC: 1085 AN: 2114

Alfa AF: 0.327 Hom.: 864

Bravo AF: 0.453

Asia WGS AF: 0.627 AC: 2182 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	5.7
DANN	Benign	0.82
PhyloP100		0.42

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: rs1983380;

hg19: chr3-118204830;