7-67723801-C-T

Variant names:

• chr7-67723801-C-T
• rs7807441

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 0.563 in 151,924 control chromosomes in the GnomAD database, including 24,187 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 0.56 (24187 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.100
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.61 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: 0.563 AC: 85534 AN: 151804 Hom.: 24183 Cov.: 31

Gnomad AFR AF: 0.547

Gnomad AMI AF: 0.518

Gnomad AMR AF: 0.596

Gnomad ASJ AF: 0.615

Gnomad EAS AF: 0.485

Gnomad SAS AF: 0.630

Gnomad FIN AF: 0.483

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.578

Gnomad OTH AF: 0.557

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

GnomAD4 genome AF: 0.563 AC: 85580 AN: 151924 Hom.: 24187 Cov.: 31 AF XY: 0.561 AC XY: 41639 AN XY: 74244

African (AFR) AF: 0.547 AC: 22679 AN: 41448

American (AMR) AF: 0.596 AC: 9089 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.615 AC: 2134 AN: 3468

East Asian (EAS) AF: 0.484 AC: 2494 AN: 5152

South Asian (SAS) AF: 0.628 AC: 3025 AN: 4814

European-Finnish (FIN) AF: 0.483 AC: 5095 AN: 10544

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

European-Non Finnish (NFE) AF: 0.578 AC: 39269 AN: 67940

Other (OTH) AF: 0.557 AC: 1171 AN: 2104

Alfa AF: 0.568 Hom.: 69891

Bravo AF: 0.567

Asia WGS AF: 0.558 AC: 1941 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	4.0
DANN	Benign	0.53
PhyloP100		0.10

Splicing

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

Other links and lift over

dbSNP: rs7807441; hg19: chr7-67188788;