rs172310

Variant names:

• chr7-155822933-A-C
• rs172310

Your query was ambiguous. Multiple possible variants found:

• chr7-155822933-A-C
• chr7-155822933-A-G
• chr7-155822933-A-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 0.742 in 152,058 control chromosomes in the GnomAD database, including 42,323 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 0.74 (42323 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.61
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.967 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: 0.742 AC: 112737 AN: 151940 Hom.: 42263 Cov.: 32

Gnomad AFR AF: 0.796

Gnomad AMI AF: 0.804

Gnomad AMR AF: 0.731

Gnomad ASJ AF: 0.664

Gnomad EAS AF: 0.990

Gnomad SAS AF: 0.878

Gnomad FIN AF: 0.664

Gnomad MID AF: 0.709

Gnomad NFE AF: 0.699

Gnomad OTH AF: 0.718

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

GnomAD4 genome AF: 0.742 AC: 112858 AN: 152058 Hom.: 42323 Cov.: 32 AF XY: 0.741 AC XY: 55083 AN XY: 74300

African (AFR) AF: 0.796 AC: 33028 AN: 41488

American (AMR) AF: 0.732 AC: 11176 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.664 AC: 2305 AN: 3472

East Asian (EAS) AF: 0.990 AC: 5100 AN: 5152

South Asian (SAS) AF: 0.878 AC: 4230 AN: 4816

European-Finnish (FIN) AF: 0.664 AC: 6984 AN: 10524

Middle Eastern (MID) AF: 0.701 AC: 206 AN: 294

European-Non Finnish (NFE) AF: 0.699 AC: 47571 AN: 68010

Other (OTH) AF: 0.721 AC: 1525 AN: 2114

Alfa AF: 0.704 Hom.: 70043

Bravo AF: 0.748

Asia WGS AF: 0.918 AC: 3192 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	0.0030
DANN	Benign	0.30
PhyloP100		-2.6

Splicing

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

Other links and lift over

dbSNP: rs172310; hg19: chr7-155615627;