rs1860148

Variant names:

• chr7-76377497-T-A
• rs1860148

Your query was ambiguous. Multiple possible variants found:

• chr7-76377497-T-A
• chr7-76377497-T-G

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 0.172 in 152,236 control chromosomes in the GnomAD database, including 2,809 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 0.17 (2809 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.149
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.303 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: 0.172 AC: 26236 AN: 152118 Hom.: 2808 Cov.: 32

Gnomad AFR AF: 0.0602

Gnomad AMI AF: 0.144

Gnomad AMR AF: 0.235

Gnomad ASJ AF: 0.233

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.266

Gnomad FIN AF: 0.168

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.207

Gnomad OTH AF: 0.172

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

GnomAD4 genome AF: 0.172 AC: 26238 AN: 152236 Hom.: 2809 Cov.: 32 AF XY: 0.173 AC XY: 12904 AN XY: 74444

African (AFR) AF: 0.0601 AC: 2497 AN: 41554

American (AMR) AF: 0.236 AC: 3602 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.233 AC: 810 AN: 3470

East Asian (EAS) AF: 0.316 AC: 1637 AN: 5182

South Asian (SAS) AF: 0.266 AC: 1285 AN: 4828

European-Finnish (FIN) AF: 0.168 AC: 1780 AN: 10612

Middle Eastern (MID) AF: 0.163 AC: 48 AN: 294

European-Non Finnish (NFE) AF: 0.207 AC: 14082 AN: 67992

Other (OTH) AF: 0.173 AC: 366 AN: 2114

Alfa AF: 0.0957 Hom.: 151

Bravo AF: 0.172

Asia WGS AF: 0.276 AC: 957 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.6
DANN	Benign	0.72
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs1860148; hg19: chr7-76006814;