8-62195199-G-A

Variant names:

• chr8-62195199-G-A
• rs1483170
• ENST00000649904.1:n.667+151C>T

Variant summary

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

The ENST00000649904.1(ENSG00000285971):​n.667+151C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.323 in 152,018 control chromosomes in the GnomAD database, including 7,992 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 0.32 (7992 hom., cov: 32)
• Consequence: ENSG00000285971 ENST00000649904.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.589
• Publications: 0 publications found

Genes affected

ENSG00000285971 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.379 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000649904.1. 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

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000285971	ENST00000649904.1		n.667+151C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.323 AC: 49024 AN: 151900 Hom.: 7982 Cov.: 32

Gnomad AFR AF: 0.316

Gnomad AMI AF: 0.353

Gnomad AMR AF: 0.303

Gnomad ASJ AF: 0.356

Gnomad EAS AF: 0.357

Gnomad SAS AF: 0.394

Gnomad FIN AF: 0.314

Gnomad MID AF: 0.332

Gnomad NFE AF: 0.323

Gnomad OTH AF: 0.317

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

GnomAD4 genome AF: 0.323 AC: 49056 AN: 152018 Hom.: 7992 Cov.: 32 AF XY: 0.325 AC XY: 24180 AN XY: 74298

African (AFR) AF: 0.316 AC: 13088 AN: 41456

American (AMR) AF: 0.303 AC: 4620 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.356 AC: 1236 AN: 3470

East Asian (EAS) AF: 0.358 AC: 1848 AN: 5164

South Asian (SAS) AF: 0.394 AC: 1898 AN: 4820

European-Finnish (FIN) AF: 0.314 AC: 3325 AN: 10576

Middle Eastern (MID) AF: 0.330 AC: 97 AN: 294

European-Non Finnish (NFE) AF: 0.323 AC: 21940 AN: 67954

Other (OTH) AF: 0.323 AC: 682 AN: 2110

Alfa AF: 0.330 Hom.: 4138

Bravo AF: 0.322

Asia WGS AF: 0.374 AC: 1306 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.83
DANN	Benign	0.30
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs1483170; hg19: chr8-63107758;