rs2495975

Variant names:

• chr6-33976237-T-C
• rs2495975

Your query was ambiguous. Multiple possible variants found:

• chr6-33976237-T-C
• chr6-33976237-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.767 in 152,120 control chromosomes in the GnomAD database, including 44,838 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 0.77 (44838 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.93

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.848 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: 0.767 AC: 116612 AN: 152002 Hom.: 44800 Cov.: 32

Gnomad AFR AF: 0.736

Gnomad AMI AF: 0.702

Gnomad AMR AF: 0.752

Gnomad ASJ AF: 0.799

Gnomad EAS AF: 0.843

Gnomad SAS AF: 0.870

Gnomad FIN AF: 0.789

Gnomad MID AF: 0.759

Gnomad NFE AF: 0.773

Gnomad OTH AF: 0.751

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

GnomAD4 genome AF: 0.767 AC: 116709 AN: 152120 Hom.: 44838 Cov.: 32 AF XY: 0.770 AC XY: 57282 AN XY: 74354

Gnomad4 AFR AF: 0.736

Gnomad4 AMR AF: 0.753

Gnomad4 ASJ AF: 0.799

Gnomad4 EAS AF: 0.843

Gnomad4 SAS AF: 0.870

Gnomad4 FIN AF: 0.789

Gnomad4 NFE AF: 0.773

Gnomad4 OTH AF: 0.752

Alfa AF: 0.772 Hom.: 69143

Bravo AF: 0.761

Asia WGS AF: 0.838 AC: 2915 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	0.86
DANN	Benign	0.20

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2495975; hg19: chr6-33944014;