7-95325909-C-G

Variant names:

• chr7-95325909-C-G
• rs705382

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 0.536 in 152,076 control chromosomes in the GnomAD database, including 23,744 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 0.54 (23744 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0740
• Publications: 16 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.629 is higher than 0.05.

Variant Effect in Transcripts

 

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
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.536 AC: 81417 AN: 151958 Hom.: 23739 Cov.: 33

Gnomad AFR AF: 0.291

Gnomad AMI AF: 0.724

Gnomad AMR AF: 0.619

Gnomad ASJ AF: 0.710

Gnomad EAS AF: 0.528

Gnomad SAS AF: 0.546

Gnomad FIN AF: 0.653

Gnomad MID AF: 0.677

Gnomad NFE AF: 0.634

Gnomad OTH AF: 0.595

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

GnomAD4 genome AF: 0.536 AC: 81460 AN: 152076 Hom.: 23744 Cov.: 33 AF XY: 0.541 AC XY: 40186 AN XY: 74330

African (AFR) AF: 0.291 AC: 12065 AN: 41464

American (AMR) AF: 0.618 AC: 9447 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.710 AC: 2462 AN: 3468

East Asian (EAS) AF: 0.529 AC: 2732 AN: 5166

South Asian (SAS) AF: 0.547 AC: 2637 AN: 4818

European-Finnish (FIN) AF: 0.653 AC: 6898 AN: 10570

Middle Eastern (MID) AF: 0.677 AC: 199 AN: 294

European-Non Finnish (NFE) AF: 0.634 AC: 43090 AN: 67988

Other (OTH) AF: 0.601 AC: 1270 AN: 2112

Alfa AF: 0.620 Hom.: 16533

Bravo AF: 0.524

Asia WGS AF: 0.534 AC: 1860 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.0
DANN	Benign	0.38
PhyloP100		0.074
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs705382; hg19: chr7-94955221;