rs6956010

Variant names:

• chr7-101123754-G-A
• rs6956010

Your query was ambiguous. Multiple possible variants found:

• chr7-101123754-G-A
• chr7-101123754-G-C

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 0.187 in 151,914 control chromosomes in the GnomAD database, including 3,426 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 0.19 (3426 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.453

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.332 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: 0.187 AC: 28350 AN: 151798 Hom.: 3416 Cov.: 31

Gnomad AFR AF: 0.0639

Gnomad AMI AF: 0.0487

Gnomad AMR AF: 0.339

Gnomad ASJ AF: 0.204

Gnomad EAS AF: 0.154

Gnomad SAS AF: 0.180

Gnomad FIN AF: 0.282

Gnomad MID AF: 0.266

Gnomad NFE AF: 0.215

Gnomad OTH AF: 0.211

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

GnomAD4 genome AF: 0.187 AC: 28370 AN: 151914 Hom.: 3426 Cov.: 31 AF XY: 0.193 AC XY: 14291 AN XY: 74236

Gnomad4 AFR AF: 0.0637

Gnomad4 AMR AF: 0.340

Gnomad4 ASJ AF: 0.204

Gnomad4 EAS AF: 0.154

Gnomad4 SAS AF: 0.181

Gnomad4 FIN AF: 0.282

Gnomad4 NFE AF: 0.215

Gnomad4 OTH AF: 0.211

Alfa AF: 0.160 Hom.: 624

Bravo AF: 0.184

Asia WGS AF: 0.167 AC: 580 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	4.0
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6956010; hg19: chr7-100767035;