rs6955437

Variant names:

• chr7-138212162-C-T
• rs6955437

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 0.181 in 152,020 control chromosomes in the GnomAD database, including 3,448 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 (3448 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.183
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.363 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: 0.181 AC: 27423 AN: 151902 Hom.: 3438 Cov.: 32

Gnomad AFR AF: 0.317

Gnomad AMI AF: 0.0374

Gnomad AMR AF: 0.184

Gnomad ASJ AF: 0.0685

Gnomad EAS AF: 0.377

Gnomad SAS AF: 0.267

Gnomad FIN AF: 0.101

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.0970

Gnomad OTH AF: 0.152

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

GnomAD4 genome AF: 0.181 AC: 27474 AN: 152020 Hom.: 3448 Cov.: 32 AF XY: 0.182 AC XY: 13497 AN XY: 74288

African (AFR) AF: 0.318 AC: 13162 AN: 41442

American (AMR) AF: 0.184 AC: 2810 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.0685 AC: 238 AN: 3472

East Asian (EAS) AF: 0.377 AC: 1948 AN: 5168

South Asian (SAS) AF: 0.267 AC: 1284 AN: 4810

European-Finnish (FIN) AF: 0.101 AC: 1068 AN: 10578

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.0970 AC: 6591 AN: 67978

Other (OTH) AF: 0.152 AC: 320 AN: 2104

Alfa AF: 0.131 Hom.: 5022

Bravo AF: 0.192

Asia WGS AF: 0.326 AC: 1131 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.88
DANN	Benign	0.48
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs6955437; hg19: chr7-137896908;