chr6-132576719-G-A

Variant names:

• chr6-132576719-G-A
• rs7765655

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 0.753 in 152,170 control chromosomes in the GnomAD database, including 43,570 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 0.75 (43570 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.169
• Publications: 13 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.819 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.753 AC: 114504 AN: 152052 Hom.: 43520 Cov.: 33

Gnomad AFR AF: 0.827

Gnomad AMI AF: 0.830

Gnomad AMR AF: 0.736

Gnomad ASJ AF: 0.644

Gnomad EAS AF: 0.587

Gnomad SAS AF: 0.772

Gnomad FIN AF: 0.797

Gnomad MID AF: 0.693

Gnomad NFE AF: 0.722

Gnomad OTH AF: 0.725

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

GnomAD4 genome AF: 0.753 AC: 114613 AN: 152170 Hom.: 43570 Cov.: 33 AF XY: 0.757 AC XY: 56297 AN XY: 74398

African (AFR) AF: 0.827 AC: 34337 AN: 41530

American (AMR) AF: 0.736 AC: 11245 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.644 AC: 2236 AN: 3472

East Asian (EAS) AF: 0.588 AC: 3036 AN: 5164

South Asian (SAS) AF: 0.772 AC: 3726 AN: 4826

European-Finnish (FIN) AF: 0.797 AC: 8447 AN: 10592

Middle Eastern (MID) AF: 0.701 AC: 206 AN: 294

European-Non Finnish (NFE) AF: 0.722 AC: 49094 AN: 67988

Other (OTH) AF: 0.725 AC: 1531 AN: 2112

Alfa AF: 0.726 Hom.: 77953

Bravo AF: 0.746

Asia WGS AF: 0.694 AC: 2411 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.4
DANN	Benign	0.43
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs7765655; hg19: chr6-132897858;