rs6951180

Positions:

• chr7-27223230-G-A
• chr7-27223230-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.714 in 152,144 control chromosomes in the GnomAD database, including 42,538 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 0.71 (42538 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.116

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.869 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.714 AC: 108590 AN: 152024 Hom.: 42541 Cov.: 32

Gnomad AFR AF: 0.374

Gnomad AMI AF: 0.830

Gnomad AMR AF: 0.781

Gnomad ASJ AF: 0.910

Gnomad EAS AF: 0.525

Gnomad SAS AF: 0.885

Gnomad FIN AF: 0.841

Gnomad MID AF: 0.864

Gnomad NFE AF: 0.875

Gnomad OTH AF: 0.769

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

GnomAD4 genome AF: 0.714 AC: 108612 AN: 152144 Hom.: 42538 Cov.: 32 AF XY: 0.716 AC XY: 53256 AN XY: 74380

Gnomad4 AFR AF: 0.373

Gnomad4 AMR AF: 0.781

Gnomad4 ASJ AF: 0.910

Gnomad4 EAS AF: 0.525

Gnomad4 SAS AF: 0.885

Gnomad4 FIN AF: 0.841

Gnomad4 NFE AF: 0.875

Gnomad4 OTH AF: 0.771

Alfa AF: 0.846 Hom.: 49987

Bravo AF: 0.689

Asia WGS AF: 0.721 AC: 2508 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.6
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6951180; hg19: chr7-27262849;