rs7776375

Variant names:

• chr6-142455927-A-G
• rs7776375

Your query was ambiguous. Multiple possible variants found:

• chr6-142455927-A-G
• chr6-142455927-A-T

Variant summary

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

The variant allele was found at a frequency of 0.391 in 151,906 control chromosomes in the GnomAD database, including 13,091 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 (13091 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0570
• Publications: 17 publications found

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 (AFR) allele frequency at 95% confidence interval = 0.598 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.391 AC: 59296 AN: 151788 Hom.: 13062 Cov.: 31

Gnomad AFR AF: 0.604

Gnomad AMI AF: 0.281

Gnomad AMR AF: 0.358

Gnomad ASJ AF: 0.329

Gnomad EAS AF: 0.397

Gnomad SAS AF: 0.323

Gnomad FIN AF: 0.268

Gnomad MID AF: 0.437

Gnomad NFE AF: 0.295

Gnomad OTH AF: 0.418

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

GnomAD4 genome AF: 0.391 AC: 59382 AN: 151906 Hom.: 13091 Cov.: 31 AF XY: 0.388 AC XY: 28818 AN XY: 74232

African (AFR) AF: 0.604 AC: 24995 AN: 41356

American (AMR) AF: 0.358 AC: 5460 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.329 AC: 1143 AN: 3470

East Asian (EAS) AF: 0.396 AC: 2043 AN: 5158

South Asian (SAS) AF: 0.324 AC: 1559 AN: 4818

European-Finnish (FIN) AF: 0.268 AC: 2832 AN: 10558

Middle Eastern (MID) AF: 0.446 AC: 131 AN: 294

European-Non Finnish (NFE) AF: 0.295 AC: 20077 AN: 67968

Other (OTH) AF: 0.420 AC: 887 AN: 2112

Alfa AF: 0.353 Hom.: 14131

Bravo AF: 0.405

Asia WGS AF: 0.423 AC: 1471 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	4.2
DANN	Benign	0.65
PhyloP100		-0.057

Splicing

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

Other links and lift over

dbSNP: rs7776375; hg19: chr6-142777064;