rs10485968

Variant names:

• chr7-81834070-G-C
• rs10485968

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 0.145 in 151,996 control chromosomes in the GnomAD database, including 1,954 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 0.14 (1954 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.438
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.188 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: 0.145 AC: 21989 AN: 151878 Hom.: 1956 Cov.: 32

Gnomad AFR AF: 0.0693

Gnomad AMI AF: 0.251

Gnomad AMR AF: 0.112

Gnomad ASJ AF: 0.315

Gnomad EAS AF: 0.0583

Gnomad SAS AF: 0.141

Gnomad FIN AF: 0.173

Gnomad MID AF: 0.185

Gnomad NFE AF: 0.190

Gnomad OTH AF: 0.138

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

GnomAD4 genome AF: 0.145 AC: 21987 AN: 151996 Hom.: 1954 Cov.: 32 AF XY: 0.142 AC XY: 10564 AN XY: 74278

African (AFR) AF: 0.0693 AC: 2871 AN: 41450

American (AMR) AF: 0.112 AC: 1707 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.315 AC: 1093 AN: 3472

East Asian (EAS) AF: 0.0587 AC: 303 AN: 5166

South Asian (SAS) AF: 0.141 AC: 676 AN: 4810

European-Finnish (FIN) AF: 0.173 AC: 1826 AN: 10552

Middle Eastern (MID) AF: 0.182 AC: 53 AN: 292

European-Non Finnish (NFE) AF: 0.190 AC: 12941 AN: 67972

Other (OTH) AF: 0.137 AC: 289 AN: 2114

Alfa AF: 0.175 Hom.: 319

Bravo AF: 0.136

Asia WGS AF: 0.0940 AC: 331 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.49
DANN	Benign	0.64
PhyloP100		-0.44

Splicing

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

Other links and lift over

dbSNP: rs10485968; hg19: chr7-81463386;