rs6695772

Variant names:

• chr1-212708597-C-G
• rs6695772

Your query was ambiguous. Multiple possible variants found:

• chr1-212708597-C-G
• chr1-212708597-C-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 0.583 in 152,120 control chromosomes in the GnomAD database, including 26,669 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 0.58 (26669 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.498
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.65 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: 0.583 AC: 88627 AN: 152002 Hom.: 26658 Cov.: 33

Gnomad AFR AF: 0.482

Gnomad AMI AF: 0.647

Gnomad AMR AF: 0.460

Gnomad ASJ AF: 0.550

Gnomad EAS AF: 0.558

Gnomad SAS AF: 0.659

Gnomad FIN AF: 0.685

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.655

Gnomad OTH AF: 0.539

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

GnomAD4 genome AF: 0.583 AC: 88655 AN: 152120 Hom.: 26669 Cov.: 33 AF XY: 0.585 AC XY: 43501 AN XY: 74364

African (AFR) AF: 0.482 AC: 19983 AN: 41458

American (AMR) AF: 0.459 AC: 7025 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.550 AC: 1910 AN: 3470

East Asian (EAS) AF: 0.559 AC: 2892 AN: 5178

South Asian (SAS) AF: 0.658 AC: 3177 AN: 4830

European-Finnish (FIN) AF: 0.685 AC: 7254 AN: 10586

Middle Eastern (MID) AF: 0.571 AC: 168 AN: 294

European-Non Finnish (NFE) AF: 0.655 AC: 44529 AN: 67990

Other (OTH) AF: 0.534 AC: 1127 AN: 2112

Alfa AF: 0.627 Hom.: 3829

Bravo AF: 0.556

Asia WGS AF: 0.543 AC: 1893 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.57
DANN	Benign	0.36
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs6695772; hg19: chr1-212881939;