rs6943029

Variant names:

• chr7-155969463-G-A
• rs6943029

Your query was ambiguous. Multiple possible variants found:

• chr7-155969463-G-A
• chr7-155969463-G-C
• chr7-155969463-G-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 0.158 in 152,102 control chromosomes in the GnomAD database, including 2,471 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 0.16 (2471 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.479
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.283 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: 0.157 AC: 23891 AN: 151984 Hom.: 2447 Cov.: 31

Gnomad AFR AF: 0.271

Gnomad AMI AF: 0.0186

Gnomad AMR AF: 0.167

Gnomad ASJ AF: 0.0904

Gnomad EAS AF: 0.295

Gnomad SAS AF: 0.141

Gnomad FIN AF: 0.126

Gnomad MID AF: 0.0759

Gnomad NFE AF: 0.0869

Gnomad OTH AF: 0.156

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

GnomAD4 genome AF: 0.158 AC: 23975 AN: 152102 Hom.: 2471 Cov.: 31 AF XY: 0.159 AC XY: 11789 AN XY: 74348

African (AFR) AF: 0.272 AC: 11282 AN: 41456

American (AMR) AF: 0.168 AC: 2564 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.0904 AC: 314 AN: 3472

East Asian (EAS) AF: 0.295 AC: 1530 AN: 5182

South Asian (SAS) AF: 0.141 AC: 679 AN: 4820

European-Finnish (FIN) AF: 0.126 AC: 1328 AN: 10576

Middle Eastern (MID) AF: 0.0782 AC: 23 AN: 294

European-Non Finnish (NFE) AF: 0.0869 AC: 5911 AN: 67988

Other (OTH) AF: 0.155 AC: 327 AN: 2116

Alfa AF: 0.111 Hom.: 3168

Bravo AF: 0.169

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.6
DANN	Benign	0.70
PhyloP100		-0.48

Splicing

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

Other links and lift over

dbSNP: rs6943029; hg19: chr7-155762157;