rs1207731

Variant names:

• chr7-97020044-A-C
• rs1207731

Your query was ambiguous. Multiple possible variants found:

• chr7-97020044-A-C
• chr7-97020044-A-G
• chr7-97020044-A-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.183 in 152,092 control chromosomes in the GnomAD database, including 2,692 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 0.18 (2692 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.609

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.42).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.208 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: 0.183 AC: 27782 AN: 151974 Hom.: 2691 Cov.: 32

Gnomad AFR AF: 0.171

Gnomad AMI AF: 0.240

Gnomad AMR AF: 0.166

Gnomad ASJ AF: 0.122

Gnomad EAS AF: 0.145

Gnomad SAS AF: 0.142

Gnomad FIN AF: 0.123

Gnomad MID AF: 0.196

Gnomad NFE AF: 0.211

Gnomad OTH AF: 0.181

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

GnomAD4 genome AF: 0.183 AC: 27798 AN: 152092 Hom.: 2692 Cov.: 32 AF XY: 0.177 AC XY: 13130 AN XY: 74334

Gnomad4 AFR AF: 0.171

Gnomad4 AMR AF: 0.166

Gnomad4 ASJ AF: 0.122

Gnomad4 EAS AF: 0.145

Gnomad4 SAS AF: 0.144

Gnomad4 FIN AF: 0.123

Gnomad4 NFE AF: 0.211

Gnomad4 OTH AF: 0.179

Alfa AF: 0.204 Hom.: 6661

Bravo AF: 0.185

Asia WGS AF: 0.136 AC: 471 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.42
CADD	Benign	14
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1207731; hg19: chr7-96649356;