rs7338657

Variant names:

• chr13-62827155-G-C
• rs7338657

Your query was ambiguous. Multiple possible variants found:

• chr13-62827155-G-C
• chr13-62827155-G-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 0.183 in 151,708 control chromosomes in the GnomAD database, including 3,016 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 (3016 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.208
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.351 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: 27804 AN: 151590 Hom.: 3018 Cov.: 32

Gnomad AFR AF: 0.0888

Gnomad AMI AF: 0.171

Gnomad AMR AF: 0.181

Gnomad ASJ AF: 0.252

Gnomad EAS AF: 0.0707

Gnomad SAS AF: 0.364

Gnomad FIN AF: 0.196

Gnomad MID AF: 0.199

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.178

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

GnomAD4 genome AF: 0.183 AC: 27803 AN: 151708 Hom.: 3016 Cov.: 32 AF XY: 0.183 AC XY: 13587 AN XY: 74114

African (AFR) AF: 0.0887 AC: 3671 AN: 41394

American (AMR) AF: 0.181 AC: 2744 AN: 15150

Ashkenazi Jewish (ASJ) AF: 0.252 AC: 874 AN: 3466

East Asian (EAS) AF: 0.0707 AC: 363 AN: 5138

South Asian (SAS) AF: 0.366 AC: 1761 AN: 4816

European-Finnish (FIN) AF: 0.196 AC: 2070 AN: 10554

Middle Eastern (MID) AF: 0.184 AC: 54 AN: 294

European-Non Finnish (NFE) AF: 0.232 AC: 15739 AN: 67878

Other (OTH) AF: 0.176 AC: 371 AN: 2108

Alfa AF: 0.104 Hom.: 166

Bravo AF: 0.173

Asia WGS AF: 0.220 AC: 767 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.41
DANN	Benign	0.50
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7338657; hg19: chr13-63401288;