rs7821178

Variant names:

• chr8-77181601-C-A
• rs7821178
• ENST00000763062.1:n.147-6763C>A

Your query was ambiguous. Multiple possible variants found:

• chr8-77181601-C-A
• chr8-77181601-C-G
• chr8-77181601-C-T

Variant summary

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

The ENST00000763062.1(ENSG00000299381):​n.147-6763C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.39 in 151,836 control chromosomes in the GnomAD database, including 12,114 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 0.39 (12114 hom., cov: 32)
• Consequence: ENSG00000299381 ENST00000763062.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.635
• Publications: 34 publications found

Genes affected

ENSG00000299381 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.492 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000763062.1. 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
	ENSG00000299381	ENST00000763062.1		n.147-6763C>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.389 AC: 59073 AN: 151718 Hom.: 12072 Cov.: 32

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.484

Gnomad AMR AF: 0.378

Gnomad ASJ AF: 0.325

Gnomad EAS AF: 0.450

Gnomad SAS AF: 0.471

Gnomad FIN AF: 0.263

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.337

Gnomad OTH AF: 0.392

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

GnomAD4 genome AF: 0.390 AC: 59171 AN: 151836 Hom.: 12114 Cov.: 32 AF XY: 0.391 AC XY: 28994 AN XY: 74170

African (AFR) AF: 0.498 AC: 20620 AN: 41394

American (AMR) AF: 0.378 AC: 5755 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.325 AC: 1129 AN: 3470

East Asian (EAS) AF: 0.451 AC: 2312 AN: 5130

South Asian (SAS) AF: 0.471 AC: 2269 AN: 4818

European-Finnish (FIN) AF: 0.263 AC: 2773 AN: 10542

Middle Eastern (MID) AF: 0.415 AC: 122 AN: 294

European-Non Finnish (NFE) AF: 0.337 AC: 22920 AN: 67928

Other (OTH) AF: 0.394 AC: 830 AN: 2108

Alfa AF: 0.347 Hom.: 18413

Bravo AF: 0.400

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.35
DANN	Benign	0.29
PhyloP100		-0.64

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: rs7821178;

hg19: chr8-78093837;