rs2930485

Variant names:

• chr8-106800447-C-G
• rs2930485
• ENST00000729376.1:n.120+6249G>C

Your query was ambiguous. Multiple possible variants found:

• chr8-106800447-C-G
• chr8-106800447-C-T

Variant summary

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

The ENST00000729376.1(ENSG00000295337):​n.120+6249G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.494 in 152,020 control chromosomes in the GnomAD database, including 20,475 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 0.49 (20475 hom., cov: 32)
• Consequence: ENSG00000295337 ENST00000729376.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.696
• Publications: 1 publications found

Genes affected

ENSG00000295337 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.734 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000729376.1. 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
	ENSG00000295337	ENST00000729376.1		n.120+6249G>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.494 AC: 75063 AN: 151902 Hom.: 20432 Cov.: 32

Gnomad AFR AF: 0.740

Gnomad AMI AF: 0.391

Gnomad AMR AF: 0.393

Gnomad ASJ AF: 0.387

Gnomad EAS AF: 0.170

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.375

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.427

Gnomad OTH AF: 0.481

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

GnomAD4 genome AF: 0.494 AC: 75157 AN: 152020 Hom.: 20475 Cov.: 32 AF XY: 0.486 AC XY: 36088 AN XY: 74294

African (AFR) AF: 0.741 AC: 30746 AN: 41502

American (AMR) AF: 0.392 AC: 5985 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.387 AC: 1341 AN: 3466

East Asian (EAS) AF: 0.171 AC: 882 AN: 5172

South Asian (SAS) AF: 0.350 AC: 1690 AN: 4824

European-Finnish (FIN) AF: 0.375 AC: 3949 AN: 10538

Middle Eastern (MID) AF: 0.524 AC: 154 AN: 294

European-Non Finnish (NFE) AF: 0.427 AC: 29042 AN: 67946

Other (OTH) AF: 0.481 AC: 1013 AN: 2106

Alfa AF: 0.460 Hom.: 2011

Bravo AF: 0.505

Asia WGS AF: 0.324 AC: 1126 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.40
DANN	Benign	0.23
PhyloP100		-0.70

Splicing

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

Other links and lift over

dbSNP: rs2930485; hg19: chr8-107812675;