chr7-95347655-T-C

Position:

• chr7-95347655-T-C

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 0.544 in 151,962 control chromosomes in the GnomAD database, including 23,043 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 0.54 (23043 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.77

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.761 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.543 AC: 82527 AN: 151844 Hom.: 22990 Cov.: 32

Gnomad AFR AF: 0.582

Gnomad AMI AF: 0.620

Gnomad AMR AF: 0.613

Gnomad ASJ AF: 0.418

Gnomad EAS AF: 0.781

Gnomad SAS AF: 0.691

Gnomad FIN AF: 0.626

Gnomad MID AF: 0.440

Gnomad NFE AF: 0.470

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.544 AC: 82638 AN: 151962 Hom.: 23043 Cov.: 32 AF XY: 0.558 AC XY: 41409 AN XY: 74248

Gnomad4 AFR AF: 0.582

Gnomad4 AMR AF: 0.614

Gnomad4 ASJ AF: 0.418

Gnomad4 EAS AF: 0.781

Gnomad4 SAS AF: 0.691

Gnomad4 FIN AF: 0.626

Gnomad4 NFE AF: 0.470

Gnomad4 OTH AF: 0.521

Alfa AF: 0.488 Hom.: 24479

Bravo AF: 0.544

Asia WGS AF: 0.738 AC: 2563 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	0.48
DANN	Benign	0.68

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1859121; hg19: chr7-94976967;