rs2107595

Variant names:

• chr7-19009765-G-A
• rs2107595

Your query was ambiguous. Multiple possible variants found:

• chr7-19009765-G-A
• chr7-19009765-G-C
• chr7-19009765-G-T

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.193 in 151,892 control chromosomes in the GnomAD database, including 2,975 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 0.19 (2975 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.65
• Publications: 161 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.43).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.324 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: 0.193 AC: 29224 AN: 151774 Hom.: 2958 Cov.: 33

Gnomad AFR AF: 0.208

Gnomad AMI AF: 0.126

Gnomad AMR AF: 0.199

Gnomad ASJ AF: 0.234

Gnomad EAS AF: 0.337

Gnomad SAS AF: 0.308

Gnomad FIN AF: 0.204

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.159

Gnomad OTH AF: 0.192

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

GnomAD4 genome AF: 0.193 AC: 29266 AN: 151892 Hom.: 2975 Cov.: 33 AF XY: 0.196 AC XY: 14549 AN XY: 74244

African (AFR) AF: 0.208 AC: 8622 AN: 41430

American (AMR) AF: 0.199 AC: 3042 AN: 15252

Ashkenazi Jewish (ASJ) AF: 0.234 AC: 812 AN: 3468

East Asian (EAS) AF: 0.337 AC: 1744 AN: 5172

South Asian (SAS) AF: 0.308 AC: 1486 AN: 4824

European-Finnish (FIN) AF: 0.204 AC: 2149 AN: 10514

Middle Eastern (MID) AF: 0.211 AC: 62 AN: 294

European-Non Finnish (NFE) AF: 0.159 AC: 10808 AN: 67916

Other (OTH) AF: 0.202 AC: 426 AN: 2110

Alfa AF: 0.176 Hom.: 5767

Bravo AF: 0.193

Asia WGS AF: 0.339 AC: 1177 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.43
CADD	Benign	18
DANN	Benign	0.64
PhyloP100		1.6

Splicing

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

Other links and lift over

dbSNP: rs2107595; hg19: chr7-19049388;