rs1695508

Variant names:

• chr7-28926939-G-A
• rs1695508

Your query was ambiguous. Multiple possible variants found:

• chr7-28926939-G-A
• chr7-28926939-G-C

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 0.249 in 152,074 control chromosomes in the GnomAD database, including 5,067 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 0.25 (5067 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.586 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: 0.249 AC: 37816 AN: 151956 Hom.: 5061 Cov.: 32

Gnomad AFR AF: 0.260

Gnomad AMI AF: 0.248

Gnomad AMR AF: 0.277

Gnomad ASJ AF: 0.288

Gnomad EAS AF: 0.606

Gnomad SAS AF: 0.254

Gnomad FIN AF: 0.256

Gnomad MID AF: 0.225

Gnomad NFE AF: 0.205

Gnomad OTH AF: 0.236

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

GnomAD4 genome AF: 0.249 AC: 37856 AN: 152074 Hom.: 5067 Cov.: 32 AF XY: 0.254 AC XY: 18851 AN XY: 74320

African (AFR) AF: 0.261 AC: 10801 AN: 41458

American (AMR) AF: 0.277 AC: 4235 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.288 AC: 998 AN: 3470

East Asian (EAS) AF: 0.604 AC: 3117 AN: 5160

South Asian (SAS) AF: 0.255 AC: 1226 AN: 4806

European-Finnish (FIN) AF: 0.256 AC: 2707 AN: 10576

Middle Eastern (MID) AF: 0.221 AC: 65 AN: 294

European-Non Finnish (NFE) AF: 0.205 AC: 13974 AN: 68006

Other (OTH) AF: 0.241 AC: 508 AN: 2112

Alfa AF: 0.228 Hom.: 509

Bravo AF: 0.254

Asia WGS AF: 0.402 AC: 1395 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.3
DANN	Benign	0.78
PhyloP100		0.24

Splicing

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

Other links and lift over

dbSNP: rs1695508; hg19: chr7-28966556;